| 1 |
 |
|
Ctsl
|
1.000
|
|
13 |
64359337-64370890 bp (-)
|
64366623 |
Autosomal Recessive (15;273)
|
excellent candidate |
2019-11-12
Thomas Gallagher
|
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+ CD8 T cells - increased
FACS CD44+ T MFI - 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 effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
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 |
|
|
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 |
|
| 3 |
|
|
Pparg
|
1.000
|
|
6 |
115360951-115490399 bp (+)
|
115451044 |
Unknown (4;0)
Autosomal Dominant (5;20)
|
potential candidate |
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 |
| 4 |
|
|
Elmo1
|
0.000
|
|
13 |
20090596-20608353 bp (+)
|
20373161 |
Autosomal Dominant (2;10)
Autosomal Recessive (1;7)
Autosomal Semidominant (1;3)
|
excellent candidate |
2019-10-29
Diantha La Vine
|
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS NK cells - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 5 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11879496 |
Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
|
potential candidate |
2019-10-29
Anne Murray
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 2 - decreased
Blood Pressure: HR Day 3 - decreased
|
G ⇒ T |
missense |
|
probably damaging |
0.998 |
| 6 |
|
|
Klhl6
|
0.072
|
|
16 |
19946496-19983037 bp (-)
|
19957218 |
Autosomal Recessive (8;130)
Autosomal Semidominant (7;45)
|
excellent candidate |
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
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
|
G ⇒ A |
nonsense |
|
probably null |
|
| 7 |
|
|
Il2rb
|
0.120
|
|
15 |
78479256-78495271 bp (-)
|
78481936 |
Autosomal Dominant (1;3)
Autosomal Recessive (2;8)
Autosomal Semidominant (5;21)
|
excellent candidate (Recruited) |
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 |
| 8 |
|
|
Myo15
|
0.000
|
|
11 |
60469339-60528369 bp (+)
|
60487425 |
Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
|
not good candidate |
2019-10-23
Anne Murray
|
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 9 |
|
|
Pcdh15
|
0.000
|
|
10 |
73099342-74649737 bp (+)
|
74379417 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;9)
|
potential candidate |
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 |
|
| 10 |
|
|
Prkcd
|
0.356
|
|
14 |
30595354-30626210 bp (-)
|
30610301 |
Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
|
excellent candidate |
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 |
| 11 |
|
|
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 |
| 12 |
|
|
Prkce
|
0.000
|
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5)
|
not good candidate |
2019-10-23
Anne Murray
|
FACS NK cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
| 13 |
|
|
Dst
|
0.404
|
|
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 |
|
| 14 |
|
|
Zbtb1
|
0.718
|
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
|
not good candidate |
2019-10-23
Anne Murray
|
FACS CD44+ CD8 MFI - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS NK T cells - increased
|
C ⇒ T |
missense |
|
probably damaging |
0.965 |
| 15 |
|
|
Ptpn6
|
0.492
|
|
6 |
124720707-124738714 bp (-)
|
124721789 |
Autosomal Dominant (1;5)
Autosomal Recessive (1;4)
Autosomal Semidominant (1;5)
|
not good candidate (Recruited) |
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 |
| 16 |
|
|
Trpc1
|
0.200
|
|
9 |
95705082-95750375 bp (-)
|
95726437 |
Autosomal Recessive (6;28)
Autosomal Semidominant (5;29)
|
excellent candidate |
2019-10-23
Diantha La Vine
|
Body Weight - increased
Body Weight (BP) - increased
Body Weight (BP, z-score) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Motor: Rotarod Weight - increased
Motor: Rotarod Weight (Z-score) - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 17 |
|
|
Nlrc4
|
0.154
|
|
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 |
| 18 |
|
|
Rel
|
0.000
|
|
11 |
23736847-23770970 bp (-)
|
23753215 |
Autosomal Recessive (4;18)
Autosomal Semidominant (5;25)
|
excellent candidate |
2019-10-23
Diantha La Vine
|
FACS B1 cells - decreased
FACS CD4+ T cells - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
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 |
|
| 19 |
|
|
Kitl
|
0.404
|
|
10 |
100015630-100100416 bp (+)
|
100076906 |
Unknown (2;0)
Autosomal Dominant (4;12)
|
good candidate |
2019-10-23
Anne Murray
|
Blood Pressure: DBP Average - increased
Blood Pressure: MBP Average - increased
Blood Pressure: MBP Day 2 - increased
pigmentation
skin/coat/nails
|
G ⇒ A |
critical splice donor site |
|
probably null |
|
| 20 |
|
|
Rab38
|
0.521
|
|
7 |
88430273-88491572 bp (+)
|
88450541 |
Autosomal Semidominant (1;5)
|
good candidate |
2019-10-23
Anne Murray
|
pigmentation
skin/coat/nails
|
T ⇒ A |
missense |
|
probably damaging |
0.995 |
| 21 |
|
|
Hps3
|
0.204
|
|
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 |
| 22 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11555448 |
Autosomal Dominant (1;4)
|
not good candidate |
2019-10-23
Anne Murray
|
Blood Pressure: HR Average - decreased
|
T ⇒ A |
missense |
|
possibly damaging |
0.907 |
| 23 |
|
|
Cd8a
|
0.076
|
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Recessive (7;49)
Autosomal Semidominant (6;64)
|
excellent candidate |
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
|
T ⇒ A |
missense |
|
probably damaging |
0.989 |
| 24 |
|
|
Lyst
|
0.248
|
|
13 |
13590397-13778803 bp (+)
|
13708212 |
Autosomal Recessive (6;68)
|
excellent candidate |
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 |
|
| 25 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122424977 |
Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
|
excellent candidate |
2019-10-14
Diantha La Vine
|
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 |
| 26 |
|
|
Smcr8
|
0.000
|
|
11 |
60777524-60788287 bp (+)
|
60778032 |
Autosomal Recessive (6;34)
Autosomal Semidominant (1;6)
|
excellent candidate |
2019-10-10
External Program
|
DSS: sensitive day 10
DSS: sensitive day 7
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 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
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 27 |
|
|
Gys2
|
0.202
|
|
6 |
142422613-142473109 bp (-)
|
142456333 |
Autosomal Recessive (2;13)
|
potential candidate |
2019-09-24
External Program
|
30 min GTT hyperoglycemic (female)
|
T ⇒ C |
missense |
|
probably benign |
0.001 |
| 28 |
|
|
Bcl10
|
0.000
|
|
3 |
145922804-145934356 bp (+)
|
145930587 |
Autosomal Dominant (1;4)
Autosomal Recessive (14;151)
Autosomal Semidominant (2;11)
|
excellent candidate |
2019-09-11
External Program
|
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 |
| 29 |
|
|
Ptpn6
|
0.492
|
|
6 |
124720707-124738714 bp (-)
|
124732435 |
Autosomal Recessive (18;133)
|
excellent candidate |
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 |
| 30 |
|
|
Zeb1
|
0.881
|
|
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 |
| 31 |
|
|
Slc9a8
|
0.000
|
|
2 |
167421712-167477000 bp (+)
|
167451296 |
Autosomal Recessive (1;5)
|
excellent candidate |
2019-09-04
External Program
|
DSS: sensitive day 7
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 32 |
|
|
Hps5
|
0.163
|
|
7 |
46760466-46796064 bp (-)
|
46783469 |
Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
|
not good candidate |
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 |
|
| 33 |
|
|
Jak3
|
0.524
|
|
8 |
71676296-71690575 bp (+)
|
71683377 |
Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
|
excellent candidate |
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 |
| 34 |
|
|
Tnfsf13b
|
0.080
|
|
8 |
10006467-10039072 bp (+)
|
10031661 |
Autosomal Recessive (6;46)
Autosomal Semidominant (9;97)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS CD11c+ DCs - increased
FACS CD4+ T cells - 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 |
|
| 35 |
|
|
Jak3
|
0.524
|
|
8 |
71676296-71690575 bp (+)
|
71686976 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
|
excellent candidate |
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 |
|
| 36 |
|
|
Insr
|
0.890
|
|
8 |
3122061-3279617 bp (-)
|
3161770 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;2)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
DSS: sensitive day 10
DSS: sensitive day 7
FACS neutrophils - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 37 |
|
|
Rac2
|
0.000
|
|
15 |
78559167-78572783 bp (-)
|
78564968 |
Autosomal Recessive (1;6)
|
excellent candidate |
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 |
| 38 |
|
|
Tshr
|
0.240
|
|
12 |
91384563-91549808 bp (+)
|
91538226 |
Unknown (1;0)
Autosomal Recessive (3;17)
|
excellent candidate |
2019-09-04
Bruce Beutler
|
125-03 Response - increased
Body Weight - decreased
Body Weight (Z-score) - decreased
endocrine/exocrine gland
growth/size
|
C ⇒ A |
nonsense |
|
probably null |
|
| 39 |
|
|
Arnt2
|
1.000
|
|
7 |
84246278-84410176 bp (-)
|
84347530 |
Autosomal Dominant (3;4)
Autosomal Semidominant (3;17)
|
excellent candidate |
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 |
| 40 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66833880 |
Autosomal Semidominant (3;15)
|
excellent candidate |
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 |
|
| 41 |
|
|
Nlrp3
|
0.086
|
|
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 |
| 42 |
|
|
Rorb
|
0.000
|
|
19 |
18930605-19111196 bp (-)
|
18955053 |
Autosomal Recessive (1;4)
|
excellent candidate |
2019-09-04
Anne Murray
|
behavior/neurological
limbs/digits/tail phenotype
nervous system
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 43 |
|
|
Scn8a
|
0.821
|
|
15 |
100869858-101045938 bp (+)
|
101035646 |
Unknown (1;0)
Autosomal Recessive (1;5)
|
potential candidate |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight - decreased
growth/size
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 44 |
|
|
Adgrf5
|
0.000
|
|
17 |
43360451-43459557 bp (+)
|
43450983 |
Autosomal Recessive (1;5)
|
not good candidate |
2019-09-04
Diantha La Vine
|
30 min GTT hyperglycemic
|
A ⇒ T |
missense |
|
probably damaging |
0.957 |
| 45 |
|
|
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 |
| 46 |
|
|
Sell
|
0.000
|
|
1 |
164061982-164084181 bp (+)
|
164066201 |
Autosomal Dominant (1;4)
Autosomal Recessive (7;45)
|
excellent candidate |
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 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-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ A |
unclassified |
9 bp |
probably null |
|
| 47 |
|
|
Slc26a4
|
0.000
|
|
12 |
31519827-31559969 bp (-)
|
31525568 |
Autosomal Recessive (1;2)
|
failed initial filter |
2019-09-04
Emre Turer
|
behavior/neurological
hearing/vestibular/ear
|
A ⇒ T |
nonsense |
|
probably null |
|
| 48 |
|
|
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 |
| 49 |
|
|
Sppl2a
|
0.102
|
|
2 |
126890391-126933235 bp (-)
|
126923594 |
Autosomal Recessive (1;5)
|
excellent candidate |
2019-09-04
Katherine Timer
|
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
A ⇒ G |
missense |
|
probably benign |
0.002 |
| 50 |
|
|
Nr3c2
|
1.000
|
|
8 |
76899442-77245012 bp (+)
|
76908668 |
Autosomal Recessive (1;5)
|
not good candidate |
2019-09-04
Bruce Beutler
|
Body Weight - decreased
growth/size
|
A ⇒ G |
unclassified |
|
probably null |
|
| 51 |
|
|
Dst
|
0.404
|
|
1 |
33908225-34308661 bp (+)
|
34165155 |
Autosomal Dominant (1;1)
Autosomal Recessive (7;27)
|
excellent candidate |
2019-09-04
Anne Murray
|
behavior/neurological
Body Weight - decreased
Body Weight (Z-score) - 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
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
critical splice donor site |
2 bp |
probably null |
|
| 52 |
|
|
Nlrp3
|
0.086
|
|
11 |
59541568-59566956 bp (+)
|
59549531 |
Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
A ⇒ G |
missense |
|
probably benign |
0.190 |
| 53 |
|
|
Tyr
|
0.340
|
|
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 |
| 54 |
|
|
Grm1
|
0.142
|
|
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 |
|
| 55 |
|
|
Adamts20
|
0.147
|
|
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 |
| 56 |
|
|
Lyst
|
0.248
|
|
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 |
|
| 57 |
|
|
Entpd5
|
0.000
|
|
12 |
84373857-84409029 bp (-)
|
84382295 |
Autosomal Recessive (9;42)
Autosomal Semidominant (2;9)
|
excellent candidate |
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 |
|
| 58 |
|
|
Syt2
|
0.150
|
|
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 |
| 59 |
|
|
Ciita
|
0.112
|
|
16 |
10480059-10528418 bp (+)
|
10513288 |
Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
|
excellent candidate |
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 |
|
| 60 |
|
|
Lyn
|
0.000
|
|
4 |
3678115-3813122 bp (+)
|
3789908 |
Autosomal Dominant (3;14)
Autosomal Recessive (1;4)
Autosomal Semidominant (5;37)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells in B1 cells - increased
FACS B220 MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS neutrophils - decreased
MCMV susceptibility
post-MCMV FACS B:T cells - decreased
post-MCMV FACS IgM+ B 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 |
nonsense |
|
probably null |
|
| 61 |
|
|
Myo6
|
0.000
|
|
9 |
80165031-80311729 bp (+)
|
80288217 |
Autosomal Recessive (4;15)
|
potential candidate |
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 |
|
| 62 |
|
|
Rorc
|
0.865
|
|
3 |
94372794-94398276 bp (+)
|
94397302 |
Autosomal Recessive (1;8)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ A |
nonsense |
|
probably null |
|
| 63 |
|
|
Socs2
|
0.206
|
|
10 |
95385362-95417180 bp (-)
|
95413081 |
Autosomal Recessive (3;16)
Autosomal Semidominant (1;5)
|
excellent candidate |
2019-09-04
Bruce Beutler
|
Body Weight - increased
Body Weight (DSS Male) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
|
C ⇒ A |
nonsense |
|
probably null |
|
| 64 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122582449 |
Autosomal Semidominant (3;25)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
post-MCMV FACS B1a cells in B1 cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 65 |
|
|
Alms1
|
0.000
|
|
6 |
85587531-85702753 bp (+)
|
85621275 |
Autosomal Recessive (2;10)
Autosomal Semidominant (1;4)
|
excellent candidate |
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 |
|
| 66 |
|
|
Lepr
|
0.000
|
|
4 |
101717404-101815352 bp (+)
|
101745645 |
Autosomal Recessive (10;147)
|
excellent candidate |
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 |
| 67 |
|
|
Tub
|
0.000
|
|
7 |
108950338-109034460 bp (+)
|
109020954 |
Autosomal Recessive (8;39)
|
excellent candidate |
2019-09-04
Bruce Beutler
|
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 (Z-score) - increased
growth/size
|
C ⇒ T |
nonsense |
|
probably null |
|
| 68 |
|
|
Nfkb2
|
0.579
|
|
19 |
46304737-46312090 bp (+)
|
46311626 |
Unknown (1;0)
Autosomal Recessive (1;4)
|
not good candidate |
2019-09-04
Diantha La Vine
|
FACS B1a cells - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.956 |
| 69 |
|
|
Mapk3
|
0.000
|
|
7 |
126759601-126765819 bp (+)
|
126763512 |
Autosomal Recessive (2;10)
|
potential candidate |
2019-09-04
Peter Jurek
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
|
A ⇒ T |
nonsense |
|
probably null |
|
| 70 |
|
|
Nlrp3
|
0.086
|
|
11 |
59541568-59566956 bp (+)
|
59548476 |
Autosomal Semidominant (3;15)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
T-dependent humoral response defect- increased antibody response to rSFV
|
T ⇒ A |
missense |
|
probably damaging |
0.991 |
| 71 |
|
|
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 |
| 72 |
|
|
Tnfsf13b
|
0.080
|
|
8 |
10006467-10039072 bp (+)
|
10031534 |
Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
|
excellent candidate |
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 |
| 73 |
|
|
Irf7
|
0.000
|
|
7 |
141262706-141266481 bp (-)
|
141264022 |
Autosomal Recessive (1;4)
|
not good candidate |
2019-09-04
Anne Murray
|
Nlrc4 inflammasome: high response
|
T ⇒ C |
missense |
|
probably damaging |
0.992 |
| 74 |
|
|
Lyst
|
0.248
|
|
13 |
13590397-13778803 bp (+)
|
13757422 |
Autosomal Semidominant (2;11)
|
potential candidate |
2019-09-04
Diantha La Vine
|
125-03 Response - decreased
phagocytosis in PECs - increased
|
T ⇒ C |
missense |
|
probably benign |
0.004 |
| 75 |
|
|
Lck
|
0.000
|
|
4 |
129548344-129573641 bp (-)
|
129558127 |
Autosomal Recessive (13;68)
Autosomal Semidominant (2;8)
|
excellent candidate |
2019-09-04
Katherine Timer
|
DSS: resistant day 10
DSS: sensitive day 7
FACS B:T cells - 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 - 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
post-MCMV FACS CD4:CD8 - decreased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD4+ T cells in CD3+ T cells - decreased
post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
post-MCMV FACS T cells - decreased
T-dependent humoral response defect- decreased antibody response to rSFV
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 76 |
|
|
Diaph1
|
0.000
|
|
18 |
37843601-37935476 bp (-)
|
37896093 |
Unknown (13;0)
Autosomal Dominant (1;5)
Autosomal Semidominant (8;34)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B:T cells - increased
FACS B1a cells in B1 cells - decreased
FACS CD4+ 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 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - decreased
MCMV susceptibility
OVA-specific IgE - decreased
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
post-MCMV FACS CD44+ CD4 MFI - decreased
post-MCMV FACS CD44+ CD4 MFI - increased
post-MCMV FACS CD44+ CD8 MFI - increased
post-MCMV FACS CD44+ T MFI - increased
post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
post-MCMV FACS central memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS central memory CD8 T cells in CD8 T cells - increased
post-MCMV FACS effector memory CD4 T cells in CD4 T cells - increased
post-MCMV FACS naive CD4 T cells in CD4 T cells - decreased
post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 77 |
|
|
Nos3
|
0.000
|
|
5 |
24364810-24384474 bp (+)
|
24372704 |
Autosomal Recessive (2;8)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
Blood Pressure: HR Average - decreased
Blood Pressure: HR Day 3 - decreased
Blood Pressure: MBP Average - increased
Blood Pressure: MBP Day 2 - increased
Blood Pressure: SBP Average - increased
Blood Pressure: SBP Day 2 - increased
Blood Pressure: SBP Day 3 - increased
DSS: sensitive day 7
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 78 |
|
|
Fcer2a
|
0.000
|
|
8 |
3681737-3694175 bp (-)
|
3688796 |
Autosomal Recessive (4;25)
|
potential candidate |
2019-09-04
Bruce Beutler
|
FACS CD11c+ DCs - increased
|
A ⇒ G |
critical splice donor site |
2 bp |
probably null |
|
| 79 |
|
|
Col3a1
|
0.899
|
|
1 |
45311538-45349706 bp (+)
|
45327866 |
Autosomal Recessive (2;7)
|
excellent candidate |
2019-09-04
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
A ⇒ T |
splice site |
3 bp |
probably null |
|
| 80 |
|
|
Grm7
|
0.000
|
|
6 |
110645581-111567230 bp (+)
|
111495791 |
Autosomal Recessive (1;2)
|
failed initial filter |
2019-09-04
Anne Murray
|
behavior/neurological
limbs/digits/tail phenotype
nervous system
|
A ⇒ T |
nonsense |
|
probably null |
|
| 81 |
|
|
Adamts20
|
0.147
|
|
15 |
94270163-94465418 bp (-)
|
94341087 |
Unknown (1;0)
|
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 82 |
|
|
Cd22
|
0.000
|
|
7 |
30865402-30880342 bp (-)
|
30869509 |
Unknown (1;0)
Autosomal Dominant (4;7)
Autosomal Recessive (4;14)
Autosomal Semidominant (6;17)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS central memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
post-MCMV FACS B cells - decreased
post-MCMV FACS B:T cells - decreased
post-MCMV FACS B1a cells - increased
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B2 cells - decreased
post-MCMV FACS IgD+ B cell percentage - decreased
post-MCMV FACS IgM+ B cells - decreased
|
C ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 83 |
|
|
Grid2
|
0.000
|
|
6 |
63255876-64704323 bp (+)
|
64429694 |
Autosomal Recessive (2;5)
|
potential candidate |
2019-09-04
Anne Murray
|
behavior/neurological
growth/size
MCMV susceptibility
nervous system
|
T ⇒ A |
nonsense |
|
probably null |
|
| 84 |
|
|
Mc4r
|
0.067
|
|
18 |
66857715-66860472 bp (-)
|
66859847 |
Autosomal Recessive (5;32)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
adipose tissue
Body Weight - increased
Body Weight (DSS) - increased
Body Weight (DSS, z-score) - increased
Body Weight (Z-score) - increased
growth/size
|
A ⇒ T |
missense |
|
probably damaging |
0.999 |
| 85 |
|
|
Hr
|
0.000
|
|
14 |
70552212-70573548 bp (+)
|
70571448 |
Autosomal Recessive (1;4)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
Body Weight (DSS Male) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1a cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS B2 cells - decreased
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+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS neutrophils - increased
FACS T cells - decreased
skin/coat/nails
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 86 |
|
|
Gk5
|
0.000
|
|
9 |
96119362-96184608 bp (+)
|
96150797 |
Autosomal Recessive (6;25)
|
excellent candidate |
2019-09-04
Anne Murray
|
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 central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
|
G ⇒ A |
critical splice donor site |
1 bp |
probably null |
|
| 87 |
|
|
Lyst
|
0.248
|
|
13 |
13590397-13778803 bp (+)
|
13740536 |
Autosomal Recessive (1;5)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
MCMV susceptibility
|
T ⇒ C |
missense |
|
possibly damaging |
0.908 |
| 88 |
|
|
Ksr2
|
0.135
|
|
5 |
117414000-117775003 bp (+)
|
117671449 |
Unknown (1;0)
Autosomal Recessive (2;9)
|
potential candidate |
2019-09-04
Anne Murray
|
growth/size
impaired response to dsDNA- type I IFN production by macrophages
|
T ⇒ A |
missense |
|
probably damaging |
0.994 |
| 89 |
|
|
Rhbdf2
|
0.000
|
|
11 |
116598165-116627019 bp (-)
|
116600191 |
Autosomal Semidominant (7;57)
|
excellent candidate |
2019-09-04
Katherine Timer
|
125-03 Response - decreased
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
|
A ⇒ T |
missense |
|
possibly damaging |
0.936 |
| 90 |
|
|
Adamts20
|
0.147
|
|
15 |
94270163-94465418 bp (-)
|
94331458 |
Autosomal Recessive (1;1)
|
failed initial filter |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
A ⇒ C |
missense |
|
probably damaging |
1.000 |
| 91 |
|
|
Atp2b2
|
0.870
|
|
6 |
113743831-114042613 bp (-)
|
113760650 |
Autosomal Recessive (2;6)
|
potential candidate |
2019-09-04
Diantha La Vine
|
behavior/neurological
Body Weight - decreased
hearing/vestibular/ear
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 92 |
|
|
Ccr7
|
0.202
|
|
11 |
99144196-99155077 bp (-)
|
99145277 |
Autosomal Recessive (3;14)
Autosomal Semidominant (1;5)
|
potential candidate |
2019-09-04
Bruce Beutler
|
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS macrophages - decreased
FACS T cells - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.899 |
| 93 |
|
|
Cd40
|
0.000
|
|
2 |
165055627-165072948 bp (+)
|
165062301 |
Autosomal Recessive (2;12)
Autosomal Semidominant (1;3)
|
potential candidate |
2019-09-04
Katherine Timer
|
OVA-specific IgE - 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 ⇒ C |
missense |
|
probably benign |
0.226 |
| 94 |
|
|
Jak3
|
0.524
|
|
8 |
71676296-71690575 bp (+)
|
71685383 |
Autosomal Recessive (29;303)
Autosomal Semidominant (1;4)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
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 NK T cells - decreased
FACS T cells - 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 |
|
| 95 |
|
|
Rims4
|
0.175
|
|
2 |
163859751-163918683 bp (-)
|
163864865 |
Autosomal Recessive (3;20)
|
excellent candidate |
2019-09-04
Anne Murray
|
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
|
C ⇒ T |
critical splice donor site |
|
probably null |
|
| 96 |
|
|
Tlr3
|
0.108
|
|
8 |
45395665-45411080 bp (-)
|
45397697 |
Autosomal Dominant (1;4)
|
not good candidate |
2019-09-04
Katherine Timer
|
TLR signaling defect: hyposensitivity to poly I:C
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably benign |
0.084 |
| 97 |
|
|
Nedd9
|
0.000
|
|
13 |
41309581-41487362 bp (-)
|
41338979 |
Autosomal Recessive (5;29)
|
excellent candidate |
2019-09-04
External Program
|
FACS B1a cells in B1 cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
|
A ⇒ T |
nonsense |
|
probably null |
|
| 98 |
|
|
Card11
|
0.000
|
|
5 |
140872990-141000582 bp (-)
|
140906767 |
Autosomal Recessive (1;7)
|
not good candidate |
2019-09-04
Diantha La Vine
|
FACS B1a cells - increased
|
T ⇒ C |
missense |
|
probably damaging |
0.959 |
| 99 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34708793 |
Autosomal Recessive (5;24)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 100 |
|
|
Tap1
|
0.000
|
|
17 |
34187553-34197225 bp (+)
|
34194941 |
Autosomal Dominant (2;9)
Autosomal Recessive (6;35)
Autosomal Semidominant (1;6)
|
good candidate |
2019-09-04
Diantha La Vine
|
FACS CD4:CD8 - increased
MCMV susceptibility
post-MCMV FACS CD4:CD8 - increased
post-MCMV FACS CD4+ T cells - decreased
post-MCMV FACS CD44+ CD8 T cells - decreased
post-MCMV FACS CD44+ T cells - decreased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS IgM+ B cells - decreased
post-MCMV FACS T cells - decreased
|
T ⇒ G |
missense |
|
probably damaging |
1.000 |
