| 1 |
 |
|
Ctsl
|
1.000
|
|
13 |
64359337-64370890 bp (-)
|
64366623 |
Autosomal Recessive (15;273) |
0.565 |
2021-01-25
Darui Xu
|
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
FACS T cells - decreased
skin/coat/nails
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
T ⇒ A |
nonsense |
|
probably null |
|
| 2 |
|
|
Tcf12
|
1.000
|
|
9 |
71842688-72111871 bp (-)
|
72015636 |
Autosomal Recessive (2;17)
Autosomal Semidominant (14;79) |
0.959 |
2021-01-12
External Program
|
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 3 |
|
|
Atm
|
0.866
|
|
9 |
53439149-53536740 bp (-)
|
53531648 |
Unknown (2;0) |
no linkage result |
2020-12-09
External Program
|
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 4 |
|
|
Bcl10
|
0.000
|
|
3 |
145922804-145934356 bp (+)
|
145930587 |
Autosomal Dominant (1;4)
Autosomal Recessive (13;147), Autosomal Semidominant (2;11) |
0.879 |
2020-08-26
External Program
|
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS neutrophils - decreased
FACS NK cells - decreased
FACS T cells - increased
IgG1 response to a Cysteine Protease (Papain) - decreased
NK cell response - decreased
NK killing - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
missense |
|
probably damaging |
0.999 |
| 5 |
|
|
Gys2
|
0.311
|
|
6 |
142422613-142473109 bp (-)
|
142456333 |
Autosomal Recessive (1;4) |
0.053 |
2020-08-26
External Program
|
30 min GTT hyperoglycemic (female)
|
T ⇒ C |
missense |
|
probably benign |
0.001 |
| 6 |
|
|
Stk4
|
0.000
|
|
2 |
164070322-164155524 bp (+)
|
164099712 |
Autosomal Recessive (2;10)
Autosomal Semidominant (2;8) |
0.860 |
2020-07-29
External Program
|
FACS B cells - increased
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM+ B cells - increased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
|
A ⇒ G |
missense |
|
probably benign |
0.000 |
| 7 |
|
|
Rac2
|
0.000
|
|
15 |
78559167-78572783 bp (-)
|
78570743 |
Autosomal Recessive (5;26)
Autosomal Semidominant (2;11) |
0.893 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ T |
nonsense |
|
probably null |
|
| 8 |
|
|
Pi4ka
|
1.000
|
|
16 |
17280351-17406314 bp (-)
|
17281044 |
Autosomal Recessive (3;18)
Autosomal Semidominant (3;12) |
0.273 |
2020-07-29
External Program
|
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
MTT Value of PECs - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 9 |
|
|
Tap2
|
0.121
|
|
17 |
34203527-34216321 bp (+)
|
34215940 |
Autosomal Recessive (1;7)
Autosomal Semidominant (1;5) |
0.331 |
2020-07-29
External Program
|
FACS CD4+ T cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
C ⇒ A |
missense |
|
possibly damaging |
0.638 |
| 10 |
|
|
Ebf1
|
0.918
|
|
11 |
44617317-45008091 bp (+)
|
44869169 |
Autosomal Recessive (14;96)
Autosomal Semidominant (4;22) |
0.959 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 11 |
|
|
Mbtps1
|
1.000
|
|
8 |
119508156-119558735 bp (-)
|
119538137 |
Autosomal Dominant (2;2)
Autosomal Recessive (2;9) |
failed initial filter |
2020-07-29
External Program
|
pigmentation
skin/coat/nails
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 12 |
|
|
Bcl3
|
0.000
|
|
7 |
19808462-19822770 bp (-)
|
19812484 |
Autosomal Recessive (1;5)
Autosomal Semidominant (1;4) |
0.696 |
2020-07-29
External Program
|
FACS central memory CD8 T cells in CD8 T cells - increased
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 13 |
|
|
Ifngr1
|
0.000
|
|
10 |
19591949-19610229 bp (+)
|
19601485 |
Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14) |
0.511 |
2020-07-29
External Program
|
FACS IgD+ B cell percentage - increased
FACS IgM+ B cells - increased
FACS macrophages - decreased
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
critical splice donor site |
|
probably null |
|
| 14 |
|
|
Pax5
|
1.000
|
|
4 |
44524757-44710487 bp (-)
|
44679494 |
Autosomal Recessive (2;21)
Autosomal Semidominant (1;7) |
0.832 |
2020-07-29
External Program
|
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
|
T ⇒ A |
missense |
|
probably damaging |
0.996 |
| 15 |
|
|
Tmprss6
|
0.098
|
|
15 |
78439667-78468634 bp (-)
|
78459427 |
Autosomal Recessive (1;10)
Autosomal Semidominant (1;4) |
0.396 |
2020-07-29
External Program
|
FACS T cells - decreased
skin/coat/nails
|
T ⇒ A |
splice site |
|
probably null |
|
| 16 |
|
|
Prkdc
|
0.954
|
|
16 |
15637866-15842235 bp (+)
|
15829697 |
Autosomal Recessive (2;9)
Autosomal Semidominant (1;4) |
0.562 |
2020-07-29
External Program
|
Body Weight (Female) - increased
FACS CD44+ CD4 MFI - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.861 |
| 17 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66840326 |
Autosomal Recessive (3;31)
Autosomal Semidominant (3;16) |
0.930 |
2020-07-29
External Program
|
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 18 |
|
|
Pik3r1
|
0.000
|
|
13 |
101680563-101768217 bp (-)
|
101701732 |
Autosomal Recessive (2;12)
Autosomal Semidominant (1;4) |
0.146 |
2020-07-29
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
resistance to B10-F16 melanoma - decreased
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 19 |
|
|
Dck
|
0.000
|
|
5 |
88764996-88783281 bp (+)
|
88772723 |
Autosomal Recessive (19;119) |
0.971 |
2020-07-01
External Program
|
Body Weight - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - increased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 20 |
|
|
Inpp5d
|
0.841
|
|
1 |
87620312-87720507 bp (+)
|
87669784 |
Unknown (1;0) |
no linkage results |
2020-06-05
Thomas Gallagher
|
CTL killing - decreased
growth/size
hematopoietic system
homeostasis/metabolism
immune system
life span-post-weaning/aging
respiratory system
|
T ⇒ A |
critical splice donor site |
2 bp |
probably benign |
|
| 21 |
|
|
Inpp5d
|
0.841
|
|
1 |
87620312-87720507 bp (+)
|
87705964 |
Autosomal Dominant (2;10)
Autosomal Recessive (3;21) |
0.915 |
2020-06-05
Thomas Gallagher
|
125-03 Response - increased
FACS IgM MFI - decreased
FACS NK cells - decreased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 22 |
|
|
Inpp5d
|
0.841
|
|
1 |
87620312-87720507 bp (+)
|
87697546 |
Autosomal Dominant (3;10)
Autosomal Semidominant (2;11) |
0.878 |
2020-06-05
Thomas Gallagher
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B2 cells - decreased
FACS CD11c+ DCs - increased
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 23 |
|
|
Ikzf1
|
0.000
|
|
11 |
11685003-11772926 bp (+)
|
11768961 |
Autosomal Dominant (20;151) |
0.971 |
2020-06-04
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B1a cells - increased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS macrophages - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS NK1.1+ T cells - increased
FACS T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 24 |
|
|
Inpp5d
|
0.841
|
|
1 |
87620312-87720507 bp (+)
|
87699675 |
Autosomal Recessive (56;439)
Autosomal Semidominant (3;25) |
0.953 |
2020-05-29
Thomas Gallagher
|
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
|
T ⇒ A |
missense |
|
probably damaging |
0.999 |
| 25 |
|
|
Inpp5d
|
0.841
|
|
1 |
87620312-87720507 bp (+)
|
87715142 |
Autosomal Recessive (1;8) |
0.358 |
2020-05-29
Thomas Gallagher
|
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
C ⇒ A |
missense |
|
probably damaging |
0.998 |
| 26 |
|
|
Wdr41
|
0.000
|
|
13 |
94976344-95023314 bp (+)
|
95015217 |
Autosomal Recessive (13;82)
Autosomal Semidominant (3;16) |
0.959 |
2020-05-12
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK1.1+ T cells - increased
Nlrc4 inflammasome: low response
NLRP3 inflammasome: low response
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: hypersensitivity to poly I:C
TLR signaling defect: hypersensitivity to R848
|
T ⇒ A |
critical splice donor site |
|
probably null |
|
| 27 |
|
|
Pik3r1
|
0.000
|
|
13 |
101680563-101768217 bp (-)
|
101702776 |
Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4) |
0.970 |
2020-02-14
External Program
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - increased
FACS CD4+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
OVA-specific IgE - increased
|
A ⇒ T |
nonsense |
|
probably null |
|
| 28 |
|
|
Smcr8
|
0.000
|
|
11 |
60777524-60788287 bp (+)
|
60778032 |
Autosomal Recessive (7;38)
Autosomal Semidominant (1;6) |
0.962 |
2020-02-04
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 29 |
|
|
Lrba
|
0.000
|
|
3 |
86224680-86782692 bp (+)
|
86350304 |
Autosomal Recessive (2;15) |
0.898 |
2020-02-04
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1b cells in B1 cells - increased
FACS B220 MFI - increased
FACS CD11c+ DCs - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
|
C ⇒ T |
nonsense |
|
probably null |
|
| 30 |
|
|
Jak3
|
0.647
|
|
8 |
71676296-71690575 bp (+)
|
71685383 |
Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4) |
0.961 |
2020-01-15
Eva Marie Y. Moresco
|
Body Weight (DSS Female) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD11c+ DCs - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
IgE response to a Cysteine Protease (Papain) - decreased
IgG1 response to a Cysteine Protease (Papain) - decreased
impaired response to dsDNA- type I IFN production by macrophages
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
|
A ⇒ T |
critical splice acceptor site |
|
probably null |
|
| 31 |
|
|
Syk
|
1.000
|
|
13 |
52583173-52648792 bp (+)
|
52640790 |
Unknown (4;0)
Autosomal Dominant (1;6) |
0.267 |
2020-01-15
Eva Marie Y. Moresco
|
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 32 |
|
|
Lig4
|
1.000
|
|
8 |
9969049-9977686 bp (-)
|
9972955 |
Autosomal Recessive (16;134)
Autosomal Semidominant (2;8) |
0.970 |
2019-12-05
External Program
|
FACS B cells - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - increased
FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 33 |
|
|
Cd4
|
0.000
|
|
6 |
124864692-124888221 bp (-)
|
124867746 |
Unknown (7;0) |
no linkage results |
2019-11-12
Bruce Beutler
|
FACS CD4+ T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
G ⇒ A |
nonsense |
|
probably null |
|
| 34 |
|
|
Pparg
|
1.000
|
|
6 |
115360951-115490399 bp (+)
|
115451044 |
Unknown (4;0)
Autosomal Dominant (5;20) |
0.233 |
2019-11-06
Bruce Beutler
|
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Z-score) - decreased
growth/size
|
G ⇒ T |
missense |
|
probably damaging |
1.000 |
| 35 |
|
|
Elmo1
|
0.000
|
|
13 |
20090596-20608353 bp (+)
|
20373161 |
Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11) |
0.782 |
2019-10-29
Diantha La Vine
|
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 36 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11879496 |
Autosomal Recessive (4;16)
Autosomal Semidominant (3;23) |
no linkage result |
2019-10-29
Anne Murray
|
|
G ⇒ T |
missense |
|
probably damaging |
0.998 |
| 37 |
|
|
Klhl6
|
0.077
|
|
16 |
19946496-19983037 bp (-)
|
19957218 |
Autosomal Recessive (8;130)
Autosomal Semidominant (6;41) |
0.907 |
2019-10-25
Bruce Beutler
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
total IgE level - increased
|
G ⇒ A |
nonsense |
|
probably null |
|
| 38 |
|
|
Il2rb
|
0.125
|
|
15 |
78479256-78495271 bp (-)
|
78481936 |
Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21) |
0.615 |
2019-10-23
Diantha La Vine
|
DSS: sensitive day 10
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: hyposensitivity to PAM3CSK4
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
total IgE level - increased
|
T ⇒ A |
missense |
|
possibly damaging |
0.721 |
| 39 |
|
|
Myo15
|
0.000
|
|
11 |
60469339-60528369 bp (+)
|
60487425 |
Autosomal Dominant (1;7)
Autosomal Recessive (1;5) |
0.134 |
2019-10-23
Anne Murray
|
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 40 |
|
|
Pcdh15
|
0.000
|
|
10 |
73099342-74649737 bp (+)
|
74379417 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;9) |
0.187 |
2019-10-23
Diantha La Vine
|
FACS CD44+ CD8 T cells - increased
FACS CD44+ T cells - increased
OVA-specific IgE after 2nd OVA/Alum - increased
|
G ⇒ T |
splice site |
|
probably null |
|
| 41 |
|
|
Prkcd
|
0.570
|
|
14 |
30595354-30626210 bp (-)
|
30610301 |
Autosomal Recessive (1;5)
Autosomal Semidominant (2;9) |
0.832 |
2019-10-23
Diantha La Vine
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
|
A ⇒ G |
start codon destroyed |
|
probably null |
0.988 |
| 42 |
|
|
Syk
|
1.000
|
|
13 |
52583173-52648792 bp (+)
|
52640733 |
Unknown (2;0)
Autosomal Dominant (2;2), Autosomal Recessive (2;2), Autosomal Semidominant (1;3) |
failed initial filter |
2019-10-23
Anne Murray
|
FACS B cells - decreased
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to MALP2
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: hyposensitivity to R848
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 43 |
|
|
Prkce
|
0.000
|
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5) |
0.040 |
2019-10-23
Anne Murray
|
FACS NK cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 44 |
|
|
Dst
|
0.257
|
|
1 |
33908225-34308661 bp (+)
|
34223795 |
Autosomal Semidominant (1;1) |
failed initial filter |
2019-10-23
Anne Murray
|
behavior/neurological
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
|
T ⇒ A |
splice site |
9 bp |
probably null |
|
| 45 |
|
|
Zbtb1
|
0.743
|
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10) |
0.058 |
2019-10-23
Anne Murray
|
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK1.1+ T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
0.965 |
| 46 |
|
|
Ptpn6
|
0.495
|
|
6 |
124720707-124738714 bp (-)
|
124721789 |
Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5) |
0.270 |
2019-10-23
Anne Murray
|
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ T MFI - increased
|
T ⇒ C |
missense |
|
probably benign |
0.423 |
| 47 |
|
|
Trpc1
|
0.181
|
|
9 |
95705082-95750375 bp (-)
|
95726437 |
Autosomal Recessive (6;28)
Autosomal Semidominant (5;29) |
0.538 |
2019-10-23
Diantha La Vine
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 48 |
|
|
Nlrc4
|
0.109
|
|
17 |
74426295-74459108 bp (-)
|
74445630 |
Autosomal Semidominant (1;3) |
failed initial filter |
2019-10-23
Peter Jurek
|
Nlrc4 inflammasome: low response
|
A ⇒ G |
missense |
|
probably damaging |
0.999 |
| 49 |
|
|
Rel
|
0.000
|
|
11 |
23736847-23770970 bp (-)
|
23753215 |
Autosomal Recessive (8;49)
Autosomal Semidominant (5;25) |
0.937 |
2019-10-23
Diantha La Vine
|
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
ratio of OVA-specific IgE over the total IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
|
A ⇒ C |
critical splice donor site |
|
probably null |
|
| 50 |
|
|
Kitl
|
0.328
|
|
10 |
100015630-100100416 bp (+)
|
100076906 |
Unknown (2;0)
Autosomal Dominant (3;8) |
failed initial filter |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 51 |
|
|
Rab38
|
0.597
|
|
7 |
88430273-88491572 bp (+)
|
88450541 |
Autosomal Semidominant (1;5) |
0.426 |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
T ⇒ A |
missense |
|
probably damaging |
0.995 |
| 52 |
|
|
Hps3
|
0.165
|
|
3 |
19995945-20035315 bp (-)
|
20030796 |
Autosomal Semidominant (1;1) |
failed initial filter |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
A ⇒ C |
missense |
|
probably damaging |
1.000 |
| 53 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11555448 |
Autosomal Dominant (1;4) |
no linkage result |
2019-10-23
Anne Murray
|
|
T ⇒ A |
missense |
|
possibly damaging |
0.907 |
| 54 |
|
|
Cd8a
|
0.069
|
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Recessive (7;49)
Autosomal Semidominant (7;68) |
0.894 |
2019-10-23
Anne Murray
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD8 T cells in CD8 T cells - decreased
MCMV susceptibility
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
|
T ⇒ A |
missense |
|
probably damaging |
0.989 |
| 55 |
|
|
Lyst
|
0.286
|
|
13 |
13590397-13778803 bp (+)
|
13708212 |
Autosomal Recessive (6;68) |
0.636 |
2019-10-14
Diantha La Vine
|
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS pDCs - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
MCMV susceptibility
pigmentation
skin/coat/nails
|
T ⇒ A |
critical splice donor site |
2 bp |
probably null |
|
| 56 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122424977 |
Autosomal Recessive (3;13)
Autosomal Semidominant (1;4) |
0.907 |
2019-10-14
Diantha La Vine
|
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 57 |
|
|
Ptpn6
|
0.495
|
|
6 |
124720707-124738714 bp (-)
|
124732435 |
Autosomal Recessive (17;126) |
0.966 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 58 |
|
|
Zeb1
|
0.905
|
|
18 |
5591860-5775467 bp (+)
|
5772455 |
Autosomal Recessive (1;3) |
failed initial filter |
2019-09-04
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ A |
missense |
|
probably damaging |
0.998 |
| 59 |
|
|
Slc9a8
|
0.000
|
|
2 |
167421712-167477000 bp (+)
|
167451296 |
Unknown |
0.305 |
2019-09-04
External Program
|
DSS: sensitive day 7
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 60 |
|
|
Hps5
|
0.109
|
|
7 |
46760466-46796064 bp (-)
|
46783469 |
Autosomal Dominant (2;19)
Autosomal Recessive (2;6) |
0.287 |
2019-09-04
Diantha La Vine
|
dsDNA induced type I IFN production - increased
FACS CD11c+ DCs - decreased
FACS IgM MFI - decreased
impaired response to dsDNA- type I IFN production by macrophages
pigmentation
skin/coat/nails
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 61 |
|
|
Jak3
|
0.647
|
|
8 |
71676296-71690575 bp (+)
|
71683377 |
Autosomal Recessive (28;212)
Autosomal Semidominant (3;15) |
0.956 |
2019-09-04
Diantha La Vine
|
125-03 Response - decreased
FACS B cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T MFI - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS NK cells - decreased
FACS T cells - decreased
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B cells - decreased
post-MCMV FACS CD11c+ DCs - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
total IgE level - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 62 |
|
|
Tnfsf13b
|
0.084
|
|
8 |
10006467-10039072 bp (+)
|
10031661 |
Autosomal Recessive (6;46)
Autosomal Semidominant (8;93) |
0.873 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS T cells - increased
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
G ⇒ A |
splice site |
5 bp |
probably null |
|
| 63 |
|
|
Jak3
|
0.647
|
|
8 |
71676296-71690575 bp (+)
|
71686976 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;5) |
0.541 |
2019-09-04
Diantha La Vine
|
cellular phenotype
FACS B:T cells - increased
FACS B1b cells - decreased
FACS CD8+ T cells - decreased
hematopoietic system
|
C ⇒ T |
splice site |
4 bp |
probably benign |
|
| 64 |
|
|
Insr
|
0.904
|
|
8 |
3122061-3279617 bp (-)
|
3161770 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;2) |
0.517 |
2019-09-04
Diantha La Vine
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS neutrophils - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 65 |
|
|
Rac2
|
0.000
|
|
15 |
78559167-78572783 bp (-)
|
78564968 |
Autosomal Recessive (1;6) |
0.871 |
2019-09-04
Anne Murray
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 66 |
|
|
Tshr
|
0.349
|
|
12 |
91384563-91549808 bp (+)
|
91538226 |
Unknown (1;0)
Autosomal Recessive (2;12) |
0.475 |
2019-09-04
Bruce Beutler
|
125-03 Response - increased
Body Weight (Z-score) - decreased
endocrine/exocrine gland
growth/size
|
C ⇒ A |
nonsense |
|
probably null |
|
| 67 |
|
|
Arnt2
|
1.000
|
|
7 |
84246278-84410176 bp (-)
|
84347530 |
Autosomal Dominant (3;4)
Autosomal Semidominant (3;17) |
0.968 |
2019-09-04
External Program
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
DSS: sensitive day 10
growth/size
NALP3 inflammasome signaling defect
NK cell response - decreased
NK killing - decreased
NLRP3 inflammasome: high response
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 68 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66833880 |
Autosomal Semidominant (3;15) |
0.945 |
2019-09-04
Katherine Timer
|
FACS B220 MFI - decreased
NLRP3 inflammasome: low response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
|
T ⇒ A |
splice site |
14 bp |
probably null |
|
| 69 |
|
|
Nlrp3
|
0.072
|
|
11 |
59541568-59566956 bp (+)
|
59565850 |
Autosomal Semidominant (1;3) |
failed initial filter |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
A ⇒ G |
missense |
|
probably benign |
0.017 |
| 70 |
|
|
Rorb
|
0.000
|
|
19 |
18930605-19111196 bp (-)
|
18955053 |
Autosomal Recessive (2;8) |
0.385 |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight (DSS Male) - increased
limbs/digits/tail phenotype
nervous system
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 71 |
|
|
Scn8a
|
0.762
|
|
15 |
100869858-101045938 bp (+)
|
101035646 |
Unknown (1;0)
Autosomal Recessive (1;5) |
0.272 |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight - decreased
growth/size
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 72 |
|
|
Adgrf5
|
0.000
|
|
17 |
43360451-43459557 bp (+)
|
43450983 |
Autosomal Recessive (1;5) |
0.046 |
2019-09-04
Diantha La Vine
|
30 min GTT hyperglycemic
|
A ⇒ T |
missense |
|
probably damaging |
0.957 |
| 73 |
|
|
Apbb2
|
0.000
|
|
5 |
66298703-66618784 bp (-)
|
66400255 |
Autosomal Recessive (1;3) |
failed initial filter |
2019-09-04
External Program
|
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
|
T ⇒ A |
missense |
|
probably damaging |
0.996 |
| 74 |
|
|
Sell
|
0.000
|
|
1 |
164061982-164084181 bp (+)
|
164066201 |
Autosomal Dominant (1;4)
Autosomal Recessive (6;41) |
0.958 |
2019-09-04
Peter Jurek
|
FACS central memory CD4 T cells in CD4 T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ A |
splice site |
9 bp |
probably null |
|
| 75 |
|
|
Slc26a4
|
0.000
|
|
12 |
31519827-31559969 bp (-)
|
31525568 |
Autosomal Recessive (2;9) |
0.703 |
2019-09-04
Emre Turer
|
behavior/neurological
DSS: sensitive day 10
hearing/vestibular/ear
|
A ⇒ T |
nonsense |
|
probably null |
|
| 76 |
|
|
Pkd2
|
1.000
|
|
5 |
104459450-104505819 bp (+)
|
104486806 |
Unknown (1;0) |
failed initial filter |
2019-09-04
Anne Murray
|
renal/urinary system
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 77 |
|
|
Sppl2a
|
0.106
|
|
2 |
126890391-126933235 bp (-)
|
126923594 |
Autosomal Recessive (3;13) |
0.696 |
2019-09-04
Katherine Timer
|
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
missense |
|
probably benign |
0.002 |
| 78 |
|
|
Nr3c2
|
1.000
|
|
8 |
76899442-77245012 bp (+)
|
76908668 |
Autosomal Recessive (1;5) |
0.099 |
2019-09-04
Bruce Beutler
|
Body Weight - decreased
growth/size
|
A ⇒ G |
splice site |
|
probably null |
|
| 79 |
|
|
Dst
|
0.257
|
|
1 |
33908225-34308661 bp (+)
|
34165155 |
Autosomal Dominant (1;1)
Autosomal Recessive (5;19) |
0.382 |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight - decreased
DSS: sensitive day 7
FACS B1a cells in B1 cells - increased
FACS CD11c+ DCs - increased
growth/size
TLR signaling defect: hypersensitivity to CpG + IFNg
|
T ⇒ C |
critical splice donor site |
2 bp |
probably null |
|
| 80 |
|
|
Nlrp3
|
0.072
|
|
11 |
59541568-59566956 bp (+)
|
59549531 |
Autosomal Dominant (1;9)
Autosomal Semidominant (1;6) |
0.871 |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
A ⇒ G |
missense |
|
probably benign |
0.190 |
| 81 |
|
|
Tyr
|
0.233
|
|
7 |
87424771-87493512 bp (-)
|
87492706 |
Autosomal Recessive (1;3) |
failed initial filter |
2019-09-04
Anne Murray
|
pigmentation
skin/coat/nails
|
C ⇒ A |
missense |
|
probably damaging |
1.000 |
| 82 |
|
|
Grm1
|
0.197
|
|
10 |
10686059-11082356 bp (-)
|
10741508 |
Autosomal Recessive (1;2) |
failed initial filter |
2019-09-04
Diantha La Vine
|
behavior/neurological
growth/size
life span-post-weaning/aging
skeleton phenotype
|
G ⇒ T |
nonsense |
|
probably null |
|
| 83 |
|
|
Adamts20
|
0.133
|
|
15 |
94270163-94465418 bp (-)
|
94345990 |
Autosomal Recessive (1;1) |
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 84 |
|
|
Lyst
|
0.286
|
|
13 |
13590397-13778803 bp (+)
|
13647083 |
Autosomal Recessive (1;1) |
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
T ⇒ A |
nonsense |
|
probably null |
|
| 85 |
|
|
Entpd5
|
0.000
|
|
12 |
84373857-84409029 bp (-)
|
84382295 |
Autosomal Recessive (10;46)
Autosomal Semidominant (2;9) |
0.917 |
2019-09-04
External Program
|
125-03 Response - increased
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B1 cells - increased
FACS CD44+ CD8 MFI - increased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
growth/size
TLR signaling defect: hypersensitivity to PAM3CSK4
|
G ⇒ A |
nonsense |
|
probably null |
|
| 86 |
|
|
Syt2
|
0.091
|
|
1 |
134646677-134762593 bp (+)
|
134747620 |
Autosomal Recessive (1;3)
Autosomal Semidominant (1;1) |
failed initial filter |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight - decreased
growth/size
lethality-postnatal
nervous system
|
C ⇒ A |
missense |
|
probably damaging |
0.998 |
| 87 |
|
|
Ciita
|
0.105
|
|
16 |
10480059-10528418 bp (+)
|
10513288 |
Autosomal Recessive (9;49)
Autosomal Semidominant (1;4) |
0.929 |
2019-09-04
Anne Murray
|
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
TLR signaling defect: hypersensitivity to R848
TLR signaling defect: TNF production by macrophages
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 88 |
|
|
Lyn
|
0.000
|
|
4 |
3678115-3813122 bp (+)
|
3789908 |
Autosomal Dominant (7;36)
Autosomal Recessive (4;18), Autosomal Semidominant (14;82) |
0.952 |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
FACS T cells - increased
MCMV susceptibility
Nlrc4 inflammasome: low response
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1b cells - increased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS B220 MFI - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ A |
nonsense |
|
probably null |
|
| 89 |
|
|
Myo6
|
0.000
|
|
9 |
80165031-80311729 bp (+)
|
80288217 |
Autosomal Recessive (4;15) |
0.131 |
2019-09-04
Anne Murray
|
behavior/neurological
dsDNA induced type I IFN production - increased
hearing/vestibular/ear
impaired response to dsDNA- type I IFN production by macrophages
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 90 |
|
|
Rorc
|
0.808
|
|
3 |
94372794-94398276 bp (+)
|
94397302 |
Autosomal Dominant (1;4)
Autosomal Recessive (1;8) |
0.819 |
2019-09-04
Diantha La Vine
|
IgE response to a Cysteine Protease (Papain) - increased
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ A |
nonsense |
|
probably null |
|
| 91 |
|
|
Socs2
|
0.177
|
|
10 |
95385362-95417180 bp (-)
|
95413081 |
Autosomal Recessive (3;15) |
0.399 |
2019-09-04
Bruce Beutler
|
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (Male) - increased
growth/size
|
C ⇒ A |
nonsense |
|
probably null |
|
| 92 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122582449 |
Autosomal Recessive (1;5)
Autosomal Semidominant (5;37) |
0.934 |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
FACS B1a cells in B1 cells - decreased
FACS IgM MFI - increased
post-MCMV FACS B1a cells in B1 cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 93 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85621275 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;4) |
0.966 |
2019-09-04
External Program
|
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 94 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101745645 |
Autosomal Recessive (10;147) |
0.957 |
2019-09-04
Diantha La Vine
|
adipose tissue
Body Weight - increased
Body Weight (DSS Female) - increased
Body Weight (DSS Male) - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
FACS macrophages - increased
growth/size
|
T ⇒ A |
missense |
|
possibly damaging |
0.938 |
| 95 |
|
|
Tub
|
0.000
|
|
7 |
108950338-109034460 bp (+)
|
109020954 |
Autosomal Recessive (5;27) |
0.445 |
2019-09-04
Bruce Beutler
|
adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 96 |
|
|
Nfkb2
|
0.597
|
|
19 |
46304737-46312090 bp (+)
|
46311626 |
Unknown (1;0)
Autosomal Recessive (1;4) |
0.079 |
2019-09-04
Diantha La Vine
|
FACS B1a cells - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.956 |
| 97 |
|
|
Mapk3
|
0.000
|
|
7 |
126759601-126765819 bp (+)
|
126763512 |
Autosomal Recessive (2;10) |
0.633 |
2019-09-04
Peter Jurek
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
A ⇒ T |
nonsense |
|
probably null |
|
| 98 |
|
|
Nlrp3
|
0.072
|
|
11 |
59541568-59566956 bp (+)
|
59548476 |
Autosomal Semidominant (2;11) |
0.915 |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
T ⇒ A |
missense |
|
probably damaging |
0.991 |
| 99 |
|
|
Gck
|
1.000
|
|
11 |
5900820-5950081 bp (-)
|
5902165 |
Autosomal Recessive (2;8)
Autosomal Semidominant (1;4) |
failed initial filter |
2019-09-04
Katherine Timer
|
30 min GTT hyperglycemic
30 min GTT hyperoglycemic (female)
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 100 |
|
|
Tnfsf13b
|
0.084
|
|
8 |
10006467-10039072 bp (+)
|
10031534 |
Autosomal Recessive (1;1)
Autosomal Semidominant (1;5) |
0.919 |
2019-09-04
Diantha La Vine
|
FACS B:T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
