| 1 |
 |
|
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 |
| 2 |
|
|
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 |
| 3 |
|
|
Ryr2
|
1.000
|
|
13 |
11553102-12106945 bp (-)
|
11879496 |
Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
|
excellent 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 |
| 4 |
|
|
Il2rb
|
0.120
|
|
15 |
78479256-78495271 bp (-)
|
78481936 |
Autosomal Recessive (1;4)
|
excellent candidate (Recruited) |
2019-10-23
Diantha La Vine
|
total IgE level - increased
|
T ⇒ A |
missense |
|
possibly damaging |
0.721 |
| 5 |
|
|
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 |
| 6 |
|
|
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 |
| 7 |
|
|
Zbtb1
|
0.718
|
|
12 |
76370266-76396950 bp (+)
|
76385891 |
Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
|
potential 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 |
| 8 |
|
|
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 |
| 9 |
|
|
Trpc1
|
0.200
|
|
9 |
95705082-95750375 bp (-)
|
95726437 |
Autosomal Recessive (3;14)
Autosomal Semidominant (5;29)
|
excellent candidate |
2019-10-23
Diantha La Vine
|
Body Weight - increased
Body Weight (BP) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Motor: Rotarod Weight - increased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 10 |
|
|
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 |
| 11 |
|
|
Rab38
|
0.521
|
|
7 |
88430273-88491572 bp (+)
|
88450541 |
Unknown
|
no Linkage result |
2019-10-23
Anne Murray
|
|
T ⇒ A |
missense |
|
probably damaging |
0.995 |
| 12 |
|
|
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 |
| 13 |
|
|
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 |
| 14 |
|
|
Cd8a
|
0.076
|
|
6 |
71373427-71379173 bp (+)
|
71373728 |
Autosomal Dominant (1;4)
Autosomal Recessive (7;49)
Autosomal Semidominant (6;64)
|
excellent candidate |
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
|
T ⇒ A |
missense |
|
probably damaging |
0.989 |
| 15 |
|
|
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 |
| 16 |
|
|
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 |
| 17 |
|
|
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 |
| 18 |
|
|
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 |
| 19 |
|
|
Ptpn6
|
0.492
|
|
6 |
124720707-124738714 bp (-)
|
124732435 |
Autosomal Recessive (19;136)
|
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 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 |
| 20 |
|
|
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 |
| 21 |
|
|
Slc9a8
|
0.000
|
|
2 |
167421712-167477000 bp (+)
|
167451296 |
Unknown
|
potential candidate |
2019-09-04
External Program
|
DSS: sensitive day 7
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 22 |
|
|
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 |
| 23 |
|
|
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 |
| 24 |
|
|
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 |
| 25 |
|
|
Arnt2
|
1.000
|
|
7 |
84246278-84410176 bp (-)
|
84347530 |
Autosomal Dominant (2;2)
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
NK cell response - decreased
NK killing - decreased
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 26 |
|
|
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 |
| 27 |
|
|
Rorb
|
0.000
|
|
19 |
18930605-19111196 bp (-)
|
18955053 |
Autosomal Recessive (3;12)
|
excellent candidate |
2019-09-04
Anne Murray
|
behavior/neurological
limbs/digits/tail phenotype
nervous system
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 28 |
|
|
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 |
| 29 |
|
|
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 |
| 30 |
|
|
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 |
| 31 |
|
|
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 |
| 32 |
|
|
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 |
| 33 |
|
|
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 |
|
| 34 |
|
|
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 |
| 35 |
|
|
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 |
| 36 |
|
|
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 |
| 37 |
|
|
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 |
| 38 |
|
|
Prkcb
|
0.000
|
|
7 |
122288751-122634402 bp (+)
|
122582449 |
Autosomal Semidominant (4;31)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
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
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 39 |
|
|
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 |
| 40 |
|
|
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 |
| 41 |
|
|
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 |
| 42 |
|
|
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 |
| 43 |
|
|
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 |
| 44 |
|
|
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 |
| 45 |
|
|
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 |
| 46 |
|
|
Lck
|
0.000
|
|
4 |
129548344-129573641 bp (-)
|
129558127 |
Autosomal Recessive (11;60)
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
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 |
| 47 |
|
|
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 |
| 48 |
|
|
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 |
| 49 |
|
|
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 |
| 50 |
|
|
Hr
|
0.000
|
|
14 |
70552212-70573548 bp (+)
|
70571448 |
Unknown
|
failed initial filter |
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
|
G ⇒ A |
missense |
|
probably damaging |
1.000 |
| 51 |
|
|
Lyst
|
0.248
|
|
13 |
13590397-13778803 bp (+)
|
13740536 |
Autosomal Recessive (1;5)
|
potential candidate |
2019-09-04
Diantha La Vine
|
MCMV susceptibility
|
T ⇒ C |
missense |
|
possibly damaging |
0.908 |
| 52 |
|
|
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 |
| 53 |
|
|
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 |
| 54 |
|
|
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 |
| 55 |
|
|
Atp2b2
|
0.870
|
|
6 |
113743831-114042613 bp (-)
|
113760650 |
Autosomal Recessive (3;10)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
behavior/neurological
Body Weight - decreased
Body Weight (Z-score) - decreased
hearing/vestibular/ear
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 56 |
|
|
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 |
| 57 |
|
|
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 |
| 58 |
|
|
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 |
| 59 |
|
|
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 |
| 60 |
|
|
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 |
| 61 |
|
|
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 |
| 62 |
|
|
Ikbkb
|
1.000
|
|
8 |
22659212-22706589 bp (-)
|
22666020 |
Autosomal Recessive (2;8)
Autosomal Semidominant (5;21)
|
excellent candidate |
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 |
| 63 |
|
|
Cacna2d2
|
0.912
|
|
9 |
107399612-107529343 bp (+)
|
107513280 |
Autosomal Recessive (2;15)
|
potential candidate |
2019-09-04
Diantha La Vine
|
Body Weight - decreased
Body Weight (Male) - decreased
growth/size
|
T ⇒ C |
missense |
|
probably damaging |
0.999 |
| 64 |
|
|
Kbtbd2
|
0.000
|
|
6 |
56777524-56797813 bp (-)
|
56779090 |
Autosomal Recessive (5;30)
|
excellent candidate |
2019-09-04
Anne Murray
|
30 min GTT hyperglycemic
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
|
A ⇒ G |
missense |
|
probably damaging |
0.996 |
| 65 |
|
|
Dck
|
0.000
|
|
5 |
88764996-88783281 bp (+)
|
88772723 |
Autosomal Recessive (19;119)
|
excellent candidate |
2019-09-04
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 |
| 66 |
|
|
Atp7b
|
0.783
|
|
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 |
| 67 |
|
|
Pax1
|
0.581
|
|
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 |
| 68 |
|
|
Rims4
|
0.175
|
|
2 |
163859751-163918683 bp (-)
|
163864120 |
Autosomal Recessive (2;12)
|
good candidate |
2019-09-04
Anne Murray
|
Body Weight - decreased
Body Weight (Z-score) - decreased
growth/size
|
A ⇒ T |
missense |
|
probably damaging |
0.994 |
| 69 |
|
|
Fasl
|
0.380
|
|
1 |
161780689-161788495 bp (-)
|
161787138 |
Autosomal Recessive (1;6)
|
potential candidate |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
|
T ⇒ G |
missense |
|
probably benign |
0.001 |
| 70 |
|
|
Pappa2
|
0.000
|
|
1 |
158711727-158980490 bp (-)
|
158716990 |
Autosomal Semidominant (3;18)
|
excellent candidate |
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 |
| 71 |
|
|
Cd22
|
0.000
|
|
7 |
30865402-30880342 bp (-)
|
30870105 |
Autosomal Recessive (7;42)
|
excellent candidate |
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 |
| 72 |
|
|
Itgb2
|
0.373
|
|
10 |
77530252-77565708 bp (+)
|
77559681 |
Autosomal Recessive (2;21)
|
potential candidate |
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 |
| 73 |
|
|
Slc13a5
|
0.000
|
|
11 |
72241989-72267222 bp (-)
|
72262076 |
Autosomal Recessive (1;4)
Autosomal Semidominant (4;19)
|
excellent candidate |
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 |
| 74 |
|
|
Smtn
|
0.800
|
|
11 |
3517523-3540612 bp (-)
|
3531326 |
Autosomal Recessive (1;6)
|
not good candidate |
2019-09-04
Anne Murray
|
Body Weight - decreased
growth/size
|
G ⇒ T |
missense |
|
possibly damaging |
0.895 |
| 75 |
|
|
Syk
|
1.000
|
|
13 |
52583173-52648792 bp (+)
|
52640790 |
Unknown (1;0)
|
potential candidate |
2019-09-04
External Program
|
FACS B cells - increased
IgE response to a Cysteine Protease (Papain) - increased
|
A ⇒ G |
missense |
|
probably damaging |
1.000 |
| 76 |
|
|
Mlph
|
0.094
|
|
1 |
90915085-90951142 bp (+)
|
90928122 |
Unknown
|
no Linkage result |
2019-09-04
Anne Murray
|
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 77 |
|
|
Itk
|
0.172
|
|
11 |
46325150-46389515 bp (-)
|
46338217 |
Autosomal Recessive (10;58)
|
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 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 |
| 78 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66841172 |
Unknown (1;0)
Autosomal Recessive (4;20)
|
not good candidate |
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 |
| 79 |
|
|
Tlr4
|
0.000
|
|
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 |
| 80 |
|
|
Malt1
|
0.341
|
|
18 |
65430962-65478823 bp (+)
|
65458200 |
Autosomal Recessive (3;8)
|
excellent candidate |
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 |
| 81 |
|
|
Zap70
|
0.198
|
|
1 |
36761798-36782818 bp (+)
|
36781412 |
Unknown (11;0)
Autosomal Dominant (4;8)
Autosomal Recessive (3;49)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
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
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 82 |
|
|
Prkcq
|
0.000
|
|
2 |
11172108-11301222 bp (+)
|
11283849 |
Autosomal Recessive (1;6)
|
excellent candidate |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
|
A ⇒ G |
missense |
|
possibly damaging |
0.822 |
| 83 |
|
|
Mc4r
|
0.067
|
|
18 |
66857715-66860472 bp (-)
|
66859821 |
Autosomal Recessive (4;39)
Autosomal Semidominant (2;16)
|
excellent candidate |
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
|
T ⇒ A |
missense |
|
probably damaging |
0.999 |
| 84 |
|
|
Dock2
|
0.000
|
|
11 |
34226815-34783892 bp (-)
|
34689760 |
Autosomal Recessive (3;14)
Autosomal Semidominant (3;18)
|
excellent candidate |
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 |
| 85 |
|
|
Slfn2
|
0.053
|
|
11 |
83065112-83070678 bp (+)
|
83069564 |
Autosomal Recessive (1;5)
|
not good candidate |
2019-09-04
Anne Murray
|
T-dependent humoral response defect- decreased antibody response to rSFV
|
A ⇒ T |
missense |
|
probably benign |
0.045 |
| 86 |
|
|
Cntnap1
|
0.594
|
|
11 |
101170523-101190724 bp (+)
|
101186764 |
Autosomal Semidominant (1;5)
|
not good candidate |
2019-09-04
Anne Murray
|
Body Weight - decreased
|
A ⇒ G |
missense |
|
probably damaging |
0.994 |
| 87 |
|
|
Rac2
|
0.000
|
|
15 |
78559167-78572783 bp (-)
|
78565945 |
Autosomal Dominant (1;2)
Autosomal Recessive (5;12)
Autosomal Semidominant (2;10)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - increased
FACS CD4:CD8 - increased
FACS CD8+ T cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
|
T ⇒ G |
missense |
|
possibly damaging |
0.955 |
| 88 |
|
|
Galc
|
0.000
|
|
12 |
98202294-98259459 bp (-)
|
98234266 |
Autosomal Semidominant (1;7)
|
potential candidate |
2019-09-04
Diantha La Vine
|
Body Weight - decreased
|
T ⇒ C |
missense |
|
probably damaging |
1.000 |
| 89 |
|
|
Lyn
|
0.000
|
|
4 |
3678115-3813122 bp (+)
|
3745330 |
Autosomal Recessive (1;4)
Autosomal Semidominant (2;12)
|
not good candidate |
2019-09-04
Diantha La Vine
|
FACS B1 cells - increased
FACS CD8+ T cells - decreased
FACS macrophages - increased
FACS T cells - decreased
|
G ⇒ T |
missense |
|
probably damaging |
1.000 |
| 90 |
|
|
Cd8b1
|
0.082
|
|
6 |
71322788-71337494 bp (+)
|
71334101 |
Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
T-dependent humoral response defect- increased antibody response to rSFV
|
A ⇒ G |
missense |
|
probably damaging |
0.996 |
| 91 |
|
|
Adamts20
|
0.147
|
|
15 |
94270163-94465418 bp (-)
|
94403445 |
Autosomal Recessive (1;12)
|
excellent candidate |
2019-09-04
Diantha La Vine
|
pigmentation
skin/coat/nails
|
C ⇒ T |
missense |
|
probably damaging |
0.999 |
| 92 |
|
|
Dsg4
|
0.563
|
|
18 |
20436175-20471821 bp (+)
|
20451862 |
Autosomal Recessive (1;5)
|
potential candidate |
2019-09-04
Anne Murray
|
skin/coat/nails
|
T ⇒ A |
missense |
|
possibly damaging |
0.814 |
| 93 |
|
|
Socs7
|
0.000
|
|
11 |
97362551-97398542 bp (+)
|
97373124 |
Autosomal Dominant (1;3)
|
failed initial filter |
2019-09-04
Anne Murray
|
Body Weight - decreased
|
T ⇒ C |
missense |
|
probably benign |
0.147 |
| 94 |
|
|
Myo1d
|
0.000
|
|
11 |
80482126-80780025 bp (-)
|
80666578 |
Autosomal Recessive (2;11)
|
excellent candidate |
2019-09-04
Anne Murray
|
DSS: sensitive day 10
DSS: sensitive day 7
|
A ⇒ T |
missense |
|
probably damaging |
1.000 |
| 95 |
|
|
Lep
|
0.000
|
|
6 |
29060220-29073877 bp (+)
|
29069090 |
Autosomal Recessive (1;4)
|
potential candidate |
2019-09-04
Anne Murray
|
Body Weight - increased
Body Weight (DSS) - increased
growth/size
|
C ⇒ A |
missense |
|
possibly damaging |
0.952 |
| 96 |
|
|
Ticam1
|
0.000
|
|
17 |
56269319-56276786 bp (-)
|
56271339 |
Unknown (2;0)
Autosomal Dominant (2;8)
|
potential candidate |
2019-09-04
Anne Murray
|
TLR signaling defect: hyposensitivity to poly I:C + IFNg
TLR signaling defect: TNF production by macrophages
|
A ⇒ G |
missense |
|
probably benign |
0.063 |
| 97 |
|
|
Yap1
|
1.000
|
|
9 |
7931999-8004596 bp (-)
|
8004284 |
Autosomal Semidominant (1;5)
|
excellent candidate |
2019-09-04
Anne Murray
|
DSS: sensitive day 10
|
C ⇒ T |
missense |
|
probably damaging |
1.000 |
| 98 |
|
|
Jak3
|
0.524
|
|
8 |
71676296-71690575 bp (+)
|
71685545 |
Autosomal Recessive (22;153)
|
failed initial filter |
2019-09-04
Diantha La Vine
|
FACS B cells - decreased
FACS B1 cells - decreased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS B220 MFI - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD4+ 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 effector memory CD4 T cells in CD4 T cells - increased
FACS IgD+ B cell percentage - 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 T cells - decreased
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
|
T ⇒ A |
missense |
|
probably damaging |
1.000 |
| 99 |
|
|
Tlr4
|
0.000
|
|
4 |
66827584-66930284 bp (+)
|
66840326 |
Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
|
excellent candidate |
2019-09-04
Katherine Timer
|
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 |
| 100 |
|
|
Adgre1
|
0.236
|
|
17 |
57358686-57483529 bp (+)
|
57402811 |
Autosomal Recessive (1;7)
|
excellent candidate |
2019-09-04
Katherine Timer
|
FACS macrophages - decreased
|
A ⇒ G |
missense |
|
unknown |
|
