1 |
 |
|
Bcl10
|
0.000
|
Derek
|
3 |
145922804-145934356 bp (+)
|
145930587 |
Autosomal Dominant (1;4) Autosomal Recessive (14;151), Autosomal Semidominant (2;11) |
0.901 |
2021-03-22
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 |
2 |
 |
|
Gys2
|
0.263
|
candy_corn
|
6 |
142422613-142473109 bp (-)
|
142456333 |
Autosomal Recessive (2;13) |
0.035 |
2021-03-22
External Program
|
30 min GTT hyperoglycemic (female)
|
T ⇒ C |
missense |
|
probably benign |
0.001 |
3 |
 |
|
Irf1
|
0.000
|
Endeka2
|
11 |
53770014-53778374 bp (+)
|
53771322 |
Autosomal Recessive (5;56) Autosomal Semidominant (15;69) |
0.883 |
2021-02-25
External Program
|
FACS B1 cells - increased FACS CD4:CD8 - increased FACS CD4+ T cells - increased FACS CD4+ T cells in CD3+ T cells - 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 - decreased FACS NK cells - decreased
|
C ⇒ G |
missense |
|
probably damaging |
1.000 |
4 |
 |
|
Atm
|
0.893
|
Tropo
|
9 |
53439149-53536740 bp (-)
|
53531648 |
Unknown (2;0) |
no linkage result |
2020-12-09
External Program
|
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
5 |
 |
|
Stk4
|
0.000
|
Sergeant
|
2 |
164070322-164155524 bp (+)
|
164099712 |
Autosomal Recessive (2;10) Autosomal Semidominant (2;8) |
0.893 |
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 |
6 |
 |
|
Pi4ka
|
1.000
|
Pia
|
16 |
17280351-17406314 bp (-)
|
17281044 |
Autosomal Recessive (3;18) Autosomal Semidominant (3;12) |
0.424 |
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 |
7 |
 |
|
Tap2
|
0.173
|
Palm
|
17 |
34203527-34216321 bp (+)
|
34215940 |
Autosomal Recessive (1;7) Autosomal Semidominant (1;5) |
0.469 |
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 |
8 |
 |
|
Ebf1
|
0.904
|
Oregano
|
11 |
44617317-45008091 bp (+)
|
44869169 |
Autosomal Recessive (15;100) Autosomal Semidominant (4;22) |
0.963 |
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 |
9 |
 |
|
Mbtps1
|
1.000
|
Muskrat
|
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 |
10 |
 |
|
Bcl3
|
0.000
|
Memorial
|
7 |
19808462-19822770 bp (-)
|
19812484 |
Autosomal Recessive (1;5) Autosomal Semidominant (1;4) |
0.521 |
2020-07-29
External Program
|
FACS central memory CD8 T cells in CD8 T cells - increased
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
11 |
 |
|
Pax5
|
1.000
|
Glacier
|
4 |
44524757-44710487 bp (-)
|
44679494 |
Autosomal Recessive (3;25) Autosomal Semidominant (1;7) |
0.916 |
2020-07-29
External Program
|
FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B1b cells in B1 cells - decreased FACS CD8a+ DCs (gated in CD11c+ cells) - increased
|
T ⇒ A |
missense |
|
probably damaging |
0.996 |
12 |
 |
|
Prkdc
|
0.947
|
Daffy
|
16 |
15637866-15842235 bp (+)
|
15829697 |
Autosomal Recessive (2;9) Autosomal Semidominant (1;4) |
0.683 |
2020-07-29
External Program
|
Body Weight (Female) - increased FACS CD44+ CD4 MFI - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.861 |
13 |
 |
|
Tlr4
|
0.000
|
Cruyff
|
4 |
66827584-66930284 bp (+)
|
66840326 |
Autosomal Recessive (3;31) Autosomal Semidominant (3;16) |
0.947 |
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 |
14 |
 |
|
Pik3r1
|
0.000
|
Astro_boy
|
13 |
101680563-101768217 bp (-)
|
101701732 |
Autosomal Recessive (2;12) Autosomal Semidominant (1;4) |
0.136 |
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 |
15 |
 |
|
Dck
|
0.000
|
rosa
|
5 |
88764996-88783281 bp (+)
|
88772723 |
Autosomal Recessive (19;119) |
0.990 |
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 |
16 |
 |
|
Inpp5d
|
0.887
|
sailing
|
1 |
87620312-87720507 bp (+)
|
87705964 |
Autosomal Dominant (2;10) Autosomal Recessive (3;21) |
0.941 |
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 |
17 |
 |
|
Inpp5d
|
0.887
|
pantone
|
1 |
87620312-87720507 bp (+)
|
87699675 |
Autosomal Recessive (57;442) Autosomal Semidominant (3;25) |
0.961 |
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 |
18 |
 |
|
Inpp5d
|
0.887
|
americas
|
1 |
87620312-87720507 bp (+)
|
87715142 |
Autosomal Recessive (1;8) |
0.350 |
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 |
19 |
 |
|
Smcr8
|
0.000
|
patriot
|
11 |
60777524-60788287 bp (+)
|
60778032 |
Autosomal Recessive (6;34) Autosomal Semidominant (1;6) |
0.978 |
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
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
20 |
 |
|
Syk
|
1.000
|
Sisyphus
|
13 |
52583173-52648792 bp (+)
|
52640790 |
Unknown (4;0) Autosomal Dominant (1;6) |
0.243 |
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 |
21 |
 |
|
Lig4
|
1.000
|
posey
|
8 |
9969049-9977686 bp (-)
|
9972955 |
Autosomal Recessive (16;134) Autosomal Semidominant (2;8) |
0.987 |
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 |
22 |
 |
|
Pparg
|
1.000
|
Energy
|
6 |
115360951-115490399 bp (+)
|
115451044 |
Unknown (4;0) Autosomal Dominant (5;20) |
0.273 |
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 |
23 |
 |
|
Elmo1
|
0.000
|
Debil
|
13 |
20090596-20608353 bp (+)
|
20373161 |
Autosomal Dominant (2;10) Autosomal Recessive (1;7), Autosomal Semidominant (3;11) |
0.823 |
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 |
24 |
 |
|
Ryr2
|
1.000
|
Arruda2
|
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 |
25 |
 |
|
Il2rb
|
0.094
|
Whistles
|
15 |
78479256-78495271 bp (-)
|
78481936 |
Autosomal Dominant (1;3) Autosomal Recessive (2;8), Autosomal Semidominant (5;21) |
0.547 |
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 |
26 |
 |
|
Syk
|
1.000
|
Poppy
|
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 |
27 |
 |
|
Prkce
|
0.000
|
Pinnacles
|
17 |
86167785-86657919 bp (+)
|
86476851 |
Autosomal Semidominant (1;5) |
0.034 |
2019-10-23
Anne Murray
|
FACS NK cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
0.997 |
28 |
 |
|
Zbtb1
|
0.742
|
Old_friend
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6) Autosomal Semidominant (2;10) |
0.070 |
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 |
29 |
 |
|
Ptpn6
|
0.555
|
Naphthalene
|
6 |
124720707-124738714 bp (-)
|
124721789 |
Autosomal Dominant (1;5) Autosomal Recessive (1;4), Autosomal Semidominant (1;5) |
0.210 |
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 |
30 |
 |
|
Trpc1
|
0.151
|
Magnified
|
9 |
95705082-95750375 bp (-)
|
95726437 |
Autosomal Recessive (6;28) Autosomal Semidominant (5;29) |
0.474 |
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 |
31 |
 |
|
Nlrc4
|
0.131
|
Inwood
|
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 |
32 |
 |
|
Rab38
|
0.639
|
Fenrir
|
7 |
88430273-88491572 bp (+)
|
88450541 |
Autosomal Semidominant (1;5) |
0.547 |
2019-10-23
Anne Murray
|
pigmentation skin/coat/nails
|
T ⇒ A |
missense |
|
probably damaging |
0.995 |
33 |
 |
|
Hps3
|
0.172
|
Blue
|
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 |
34 |
 |
|
Ryr2
|
1.000
|
Arruda3
|
13 |
11553102-12106945 bp (-)
|
11555448 |
Autosomal Dominant (1;4) |
no linkage result |
2019-10-23
Anne Murray
|
|
T ⇒ A |
missense |
|
possibly damaging |
0.907 |
35 |
 |
|
Cd8a
|
0.062
|
Alfalfa
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Dominant (1;4) Autosomal Recessive (7;49), Autosomal Semidominant (7;68) |
0.857 |
2019-10-23
Anne Murray
|
FACS CD4:CD8 - increased FACS CD4+ T cells - 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 |
36 |
 |
|
Prkcb
|
0.000
|
tigris
|
7 |
122288751-122634402 bp (+)
|
122424977 |
Autosomal Recessive (2;9) Autosomal Semidominant (1;4) |
0.932 |
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 |
37 |
 |
|
Ptpn6
|
0.555
|
farfalla_notturna
|
6 |
124720707-124738714 bp (-)
|
124732435 |
Autosomal Recessive (17;126) |
0.964 |
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 |
38 |
 |
|
Zeb1
|
0.919
|
serpens
|
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 |
39 |
 |
|
Slc9a8
|
0.000
|
costello
|
2 |
167421712-167477000 bp (+)
|
167451296 |
Autosomal Recessive (1;5) |
0.389 |
2019-09-04
External Program
|
DSS: sensitive day 7
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
40 |
 |
|
Jak3
|
0.721
|
mount_tai
|
8 |
71676296-71690575 bp (+)
|
71683377 |
Autosomal Recessive (28;212) Autosomal Semidominant (3;15) |
0.970 |
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 |
41 |
 |
|
Insr
|
0.839
|
gummi_bear
|
8 |
3122061-3279617 bp (-)
|
3161770 |
Autosomal Recessive (2;10) Autosomal Semidominant (1;2) |
0.818 |
2019-09-04
Diantha La Vine
|
DSS: sensitive day 10 DSS: sensitive day 7 FACS neutrophils - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
42 |
 |
|
Rac2
|
0.000
|
bingo
|
15 |
78559167-78572783 bp (-)
|
78564968 |
Autosomal Recessive (1;6) |
0.920 |
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 |
43 |
 |
|
Arnt2
|
1.000
|
Arnold2
|
7 |
84246278-84410176 bp (-)
|
84347530 |
Autosomal Dominant (3;4) Autosomal Semidominant (3;17) |
0.985 |
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 |
44 |
 |
|
Nlrp3
|
0.101
|
Park3
|
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 |
45 |
 |
|
Rorb
|
0.000
|
dee-no
|
19 |
18930605-19111196 bp (-)
|
18955053 |
Unknown |
no linkage result |
2019-09-04
Anne Murray
|
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
46 |
 |
|
Scn8a
|
0.804
|
nymph
|
15 |
100869858-101045938 bp (+)
|
101035646 |
Unknown (1;0) Autosomal Recessive (1;5) |
0.235 |
2019-09-04
Anne Murray
|
behavior/neurological Body Weight - decreased growth/size
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
47 |
 |
|
Adgrf5
|
0.000
|
sweetie
|
17 |
43360451-43459557 bp (+)
|
43450983 |
Autosomal Recessive (1;5) |
0.049 |
2019-09-04
Diantha La Vine
|
30 min GTT hyperglycemic
|
A ⇒ T |
missense |
|
probably damaging |
0.957 |
48 |
 |
|
Apbb2
|
0.000
|
bund
|
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 |
49 |
 |
|
Pkd2
|
1.000
|
Nephro
|
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 |
50 |
 |
|
Sppl2a
|
0.081
|
abra
|
2 |
126890391-126933235 bp (-)
|
126923594 |
Autosomal Recessive (3;13) |
0.886 |
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 |
51 |
 |
|
Nr3c2
|
1.000
|
naughty
|
8 |
76899442-77245012 bp (+)
|
76908668 |
Autosomal Recessive (1;5) |
0.094 |
2019-09-04
Bruce Beutler
|
Body Weight - decreased growth/size
|
A ⇒ G |
splice site |
|
probably null |
|
52 |
 |
|
Nlrp3
|
0.101
|
Park4
|
11 |
59541568-59566956 bp (+)
|
59549531 |
Autosomal Dominant (1;9) Autosomal Semidominant (1;6) |
0.868 |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect NLRP3 inflammasome: low response
|
A ⇒ G |
missense |
|
probably benign |
0.190 |
53 |
 |
|
Tyr
|
0.197
|
rufus
|
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 |
 |
|
Adamts20
|
0.164
|
pikachu
|
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 |
55 |
 |
|
Syt2
|
0.080
|
kringle
|
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 |
56 |
 |
|
Prkcb
|
0.000
|
Almonde
|
7 |
122288751-122634402 bp (+)
|
122582449 |
Autosomal Recessive (1;5) Autosomal Semidominant (6;43) |
0.955 |
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 post-MCMV FACS B1b cells in B1 cells - increased 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 |
57 |
 |
|
Lepr
|
0.000
|
paleo
|
4 |
101717404-101815352 bp (+)
|
101745645 |
Autosomal Recessive (10;147) |
0.933 |
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 |
58 |
 |
|
Nfkb2
|
0.592
|
pale_fire
|
19 |
46304737-46312090 bp (+)
|
46311626 |
Unknown (1;0) Autosomal Recessive (1;4) |
0.087 |
2019-09-04
Diantha La Vine
|
FACS B1a cells - increased
|
A ⇒ T |
missense |
|
possibly damaging |
0.956 |
59 |
 |
|
Nlrp3
|
0.101
|
Park5
|
11 |
59541568-59566956 bp (+)
|
59548476 |
Autosomal Semidominant (2;11) |
0.938 |
2019-09-04
Diantha La Vine
|
NALP3 inflammasome signaling defect NLRP3 inflammasome: low response
|
T ⇒ A |
missense |
|
probably damaging |
0.991 |
60 |
 |
|
Gck
|
1.000
|
Grahamcracker
|
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 |
61 |
 |
|
Tnfsf13b
|
0.096
|
Applecrisp
|
8 |
10006467-10039072 bp (+)
|
10031534 |
Autosomal Recessive (1;1) Autosomal Semidominant (1;5) |
0.958 |
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 |
62 |
 |
|
Irf7
|
0.000
|
Houstonian
|
7 |
141262706-141266481 bp (-)
|
141264022 |
Autosomal Recessive (1;4) |
0.287 |
2019-09-04
Anne Murray
|
Nlrc4 inflammasome: high response
|
T ⇒ C |
missense |
|
probably damaging |
0.992 |
63 |
 |
|
Lyst
|
0.299
|
Swallow
|
13 |
13590397-13778803 bp (+)
|
13757422 |
Autosomal Semidominant (2;11) |
0.046 |
2019-09-04
Diantha La Vine
|
125-03 Response - decreased phagocytosis in PECs - increased
|
T ⇒ C |
missense |
|
probably benign |
0.004 |
64 |
 |
|
Lck
|
0.000
|
lockdown
|
4 |
129548344-129573641 bp (-)
|
129558127 |
Autosomal Recessive (13;68) Autosomal Semidominant (2;8) |
0.955 |
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 |
65 |
 |
|
Nos3
|
0.000
|
paul
|
5 |
24364810-24384474 bp (+)
|
24372704 |
Autosomal Recessive (2;8) |
0.210 |
2019-09-04
Diantha La Vine
|
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 |
66 |
 |
|
Adamts20
|
0.164
|
buckeye
|
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 |
67 |
 |
|
Mc4r
|
0.090
|
chubby
|
18 |
66857715-66860472 bp (-)
|
66859847 |
Autosomal Recessive (5;32) |
0.891 |
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 |
68 |
 |
|
Hr
|
0.000
|
yuanxiao
|
14 |
70552212-70573548 bp (+)
|
70571448 |
Autosomal Recessive (1;4) |
0.383 |
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 |
69 |
 |
|
Lyst
|
0.299
|
lightspeed
|
13 |
13590397-13778803 bp (+)
|
13740536 |
Autosomal Recessive (1;5) |
0.312 |
2019-09-04
Diantha La Vine
|
MCMV susceptibility
|
T ⇒ C |
missense |
|
possibly damaging |
0.908 |
70 |
 |
|
Ksr2
|
0.102
|
gigante
|
5 |
117414000-117775003 bp (+)
|
117671449 |
Unknown (1;0) Autosomal Recessive (5;22) |
0.637 |
2019-09-04
Anne Murray
|
Body Weight - increased Body Weight (Female) - increased Body Weight (Z-score) - increased growth/size impaired response to dsDNA- type I IFN production by macrophages
|
T ⇒ A |
missense |
|
probably damaging |
0.994 |
71 |
 |
|
Rhbdf2
|
0.000
|
Lostnf2
|
11 |
116598165-116627019 bp (-)
|
116600191 |
Autosomal Semidominant (7;57) |
0.926 |
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 |
72 |
 |
|
Adamts20
|
0.164
|
Meowth
|
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 |
73 |
 |
|
Atp2b2
|
0.907
|
lohan
|
6 |
113743831-114042613 bp (-)
|
113760650 |
Autosomal Recessive (2;6) |
0.340 |
2019-09-04
Diantha La Vine
|
behavior/neurological Body Weight - decreased hearing/vestibular/ear
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
74 |
 |
|
Ccr7
|
0.281
|
lanzhou
|
11 |
99144196-99155077 bp (-)
|
99145277 |
Autosomal Recessive (3;14) Autosomal Semidominant (1;5) |
0.235 |
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 |
75 |
 |
|
Cd40
|
0.000
|
bluebonnet
|
2 |
165055627-165072948 bp (+)
|
165062301 |
Autosomal Recessive (2;12) Autosomal Semidominant (1;3) |
0.464 |
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 |
76 |
 |
|
Tlr3
|
0.082
|
Rakshasa
|
8 |
45395665-45411080 bp (-)
|
45397697 |
Autosomal Dominant (1;4) |
0.036 |
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 |
77 |
 |
|
Card11
|
0.000
|
hubei
|
5 |
140872990-141000582 bp (-)
|
140906767 |
Autosomal Recessive (1;7) |
0.197 |
2019-09-04
Diantha La Vine
|
FACS B1a cells - increased
|
T ⇒ C |
missense |
|
probably damaging |
0.959 |
78 |
 |
|
Dock2
|
0.000
|
liaoning
|
11 |
34226815-34783892 bp (-)
|
34708793 |
Autosomal Recessive (5;24) |
0.945 |
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 |
79 |
 |
|
Tap1
|
0.000
|
rose2
|
17 |
34187553-34197225 bp (+)
|
34194941 |
Autosomal Dominant (2;9) Autosomal Recessive (6;35), Autosomal Semidominant (1;6) |
0.977 |
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 |
80 |
 |
|
Ikbkb
|
1.000
|
Impaired
|
8 |
22659212-22706589 bp (-)
|
22666020 |
Autosomal Recessive (2;8) Autosomal Semidominant (5;21) |
0.725 |
2019-09-04
Diantha La Vine
|
IgG1 response to a Cysteine Protease (Papain) - decreased MCMV susceptibility post-MCMV FACS B1a cells in B1 cells - decreased post-MCMV FACS B1b cells in B1 cells - increased post-MCMV FACS CD44+ CD4 MFI - decreased post-MCMV FACS CD44+ CD8 MFI - decreased post-MCMV FACS CD44+ CD8 T cells - decreased post-MCMV FACS CD44+ T MFI - decreased post-MCMV FACS CD8a+ DCs (gated in CD11c+ cells) - increased post-MCMV FACS effector memory CD4 T cells in CD4 T cells - decreased post-MCMV FACS effector memory CD8 T cells in CD8 T cells - decreased TLR signaling defect: hyposensitivity to MALP2
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
81 |
 |
|
Cacna2d2
|
0.878
|
hera
|
9 |
107399612-107529343 bp (+)
|
107513280 |
Autosomal Recessive (3;22) |
0.681 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size
|
T ⇒ C |
missense |
|
probably damaging |
0.999 |
82 |
 |
|
Kbtbd2
|
0.000
|
infinitesimal
|
6 |
56777524-56797813 bp (-)
|
56779090 |
Autosomal Recessive (9;53) |
0.984 |
2019-09-04
Anne Murray
|
30 min GTT hyperglycemic 30 min GTT hyperglycemic (male) Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size MCMV susceptibility
|
A ⇒ G |
missense |
|
probably damaging |
0.996 |
83 |
 |
|
Atp7b
|
0.673
|
daffodil
|
8 |
21992785-22060305 bp (-)
|
21998266 |
Unknown (1;0) |
failed initial filter |
2019-09-04
Anne Murray
|
liver/biliary system MTT Value of PECs - decreased
|
T ⇒ G |
missense |
|
probably damaging |
1.000 |
84 |
 |
|
Pax1
|
0.499
|
wavy
|
2 |
147361925-147393295 bp (+)
|
147365802 |
Unknown (1;0) |
failed initial filter |
2019-09-04
Anne Murray
|
limbs/digits/tail phenotype
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
85 |
 |
|
Rims4
|
0.146
|
demure
|
2 |
163859751-163918683 bp (-)
|
163864120 |
Autosomal Recessive (2;12) |
0.595 |
2019-09-04
Anne Murray
|
Body Weight - decreased Body Weight (Z-score) - decreased growth/size
|
A ⇒ T |
missense |
|
probably damaging |
0.994 |
86 |
 |
|
Fasl
|
0.380
|
riogrande2
|
1 |
161780689-161788495 bp (-)
|
161787138 |
Autosomal Recessive (1;6) |
0.167 |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ G |
missense |
|
probably benign |
0.001 |
87 |
 |
|
Pappa2
|
0.000
|
Lilliputian
|
1 |
158711727-158980490 bp (-)
|
158716990 |
Autosomal Semidominant (3;18) |
0.910 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size
|
C ⇒ A |
missense |
|
probably damaging |
1.000 |
88 |
 |
|
Cd22
|
0.000
|
gansu
|
7 |
30865402-30880342 bp (-)
|
30870105 |
Autosomal Recessive (7;42) |
0.910 |
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 B2 cells - decreased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
89 |
 |
|
Itgb2
|
0.330
|
newhome
|
10 |
77530252-77565708 bp (+)
|
77559681 |
Autosomal Recessive (2;21) |
0.544 |
2019-09-04
Diantha La Vine
|
dsDNA induced type I IFN production - increased impaired response to dsDNA- type I IFN production by macrophages
|
G ⇒ A |
missense |
|
probably benign |
0.001 |
90 |
 |
|
Slc13a5
|
0.000
|
Punk
|
11 |
72241989-72267222 bp (-)
|
72262076 |
Autosomal Recessive (1;4) Autosomal Semidominant (4;19) |
0.542 |
2019-09-04
Diantha La Vine
|
Body Weight - decreased Body Weight (DSS) - decreased Body Weight (Female) - decreased Body Weight (Male) - decreased Body Weight (Z-score) - decreased growth/size
|
A ⇒ G |
missense |
|
probably damaging |
0.998 |
91 |
 |
|
Smtn
|
0.438
|
runtish
|
11 |
3517523-3540612 bp (-)
|
3531326 |
Autosomal Recessive (1;6) |
0.102 |
2019-09-04
Anne Murray
|
Body Weight - decreased growth/size
|
G ⇒ T |
missense |
|
possibly damaging |
0.895 |
92 |
 |
|
Mlph
|
0.091
|
beau
|
1 |
90915085-90951142 bp (+)
|
90928122 |
Unknown |
no linkage result |
2019-09-04
Anne Murray
|
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
93 |
 |
|
Itk
|
0.164
|
itxaro
|
11 |
46325150-46389515 bp (-)
|
46338217 |
Autosomal Recessive (10;58) |
0.960 |
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 CD44+ CD8 MFI - increased FACS CD44+ T MFI - 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 CD8 T cells in CD8 T cells - decreased IgE response to a Cysteine Protease (Papain) - increased total IgE level - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
94 |
 |
|
Tlr4
|
0.000
|
don_knotts
|
4 |
66827584-66930284 bp (+)
|
66841172 |
Unknown (1;0) Autosomal Recessive (4;20) |
0.270 |
2019-09-04
Katherine Timer
|
FACS B cells - decreased FACS B220 MFI - increased FACS IgD+ B cell percentage - decreased FACS IgM+ B cells - decreased TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
95 |
 |
|
Tlr4
|
0.000
|
milquetoast
|
4 |
66827584-66930284 bp (+)
|
66839444 |
Autosomal Recessive (1;4) |
failed initial filter |
2019-09-04
Anne Murray
|
TLR signaling defect: hyposensitivity to LPS TLR signaling defect: TNF production by macrophages
|
A ⇒ T |
missense |
|
probably damaging |
0.998 |
96 |
 |
|
Malt1
|
0.435
|
yellowstone
|
18 |
65430962-65478823 bp (+)
|
65458200 |
Autosomal Recessive (3;8) |
0.327 |
2019-09-04
Anne Murray
|
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 |
missense |
|
probably damaging |
1.000 |
97 |
 |
|
Zap70
|
0.204
|
wanna2
|
1 |
36761798-36782818 bp (+)
|
36781412 |
Unknown (11;0) Autosomal Dominant (4;8), Autosomal Recessive (9;86) |
0.910 |
2019-09-04
Diantha La Vine
|
30 min GTT hypoglycemic dsDNA induced type I IFN production - increased FACS B:T cells - increased FACS CD4:CD8 - increased 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 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 effector memory CD4 T cells in CD4 T cells - increased FACS effector memory CD8 T cells in CD8 T cells - increased FACS NK cells - increased FACS T cells - decreased impaired response to dsDNA- type I IFN production by macrophages 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 LPS TLR signaling defect: hypersensitivity to PAM3CSK4 TLR signaling defect: hypersensitivity to R848 TLR signaling defect: TNF production by macrophages
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
98 |
 |
|
Prkcq
|
0.000
|
celina
|
2 |
11172108-11301222 bp (+)
|
11283849 |
Autosomal Recessive (1;6) |
0.427 |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
A ⇒ G |
missense |
|
possibly damaging |
0.822 |
99 |
 |
|
Mc4r
|
0.090
|
halloween
|
18 |
66857715-66860472 bp (-)
|
66859821 |
Autosomal Recessive (6;47) Autosomal Semidominant (4;24) |
0.839 |
2019-09-04
Diantha La Vine
|
125-03 Response - decreased adipose tissue Body Weight - increased Body Weight (Female) - increased Body Weight (Male) - increased Body Weight (Z-score) - increased growth/size MTT Value of PECs - decreased T-dependent humoral response defect- increased antibody response to rSFV
|
T ⇒ A |
missense |
|
probably damaging |
0.999 |
100 |
 |
|
Dock2
|
0.000
|
Arches
|
11 |
34226815-34783892 bp (-)
|
34689760 |
Autosomal Recessive (3;14) Autosomal Semidominant (3;18) |
0.729 |
2019-09-04
Diantha La Vine
|
FACS B1 cells - increased FACS B1a cells in B1 cells - decreased FACS B220 MFI - decreased FACS CD4:CD8 - decreased FACS CD4+ T cells in CD3+ T cells - decreased FACS CD8+ T cells in CD3+ T cells - increased
|
A ⇒ T |
missense |
|
probably damaging |
0.999 |