Phenotypic Mutations

143 mutations affecting 113 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 144] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW Tcf12 1.000 Poorly3 9 71842688-72111871 bp (-) 72015636 Autosomal Recessive (2;17)
Autosomal Semidominant (15;83)
0.989 2021-03-22
External Program
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G critical splice donor site 2 bp probably null
2 UTSW 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
3 UTSW 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
4 UTSW 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
5 UTSW 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
6 UTSW 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
7 UTSW Prkcd 0.598 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.852 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
8 UTSW 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
9 UTSW 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
10 UTSW
has photo
Hps5 0.116 Titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.199 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
11 UTSW 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
12 UTSW 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
13 UTSW 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
14 UTSW
has video
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
15 UTSW
has video
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
16 UTSW 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
17 UTSW 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
18 UTSW 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
19 UTSW Diaph1 0.000 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5), Autosomal Semidominant (9;37)
0.990 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
20 UTSW Fcer2a 0.000 arum 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 0.091 2019-09-04
Bruce Beutler
FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
21 UTSW 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
22 UTSW 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
23 UTSW 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
24 UTSW 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
25 UTSW 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
26 UTSW 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
27 UTSW
has photo
Rc3h1 0.353 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (4;23), Autosomal Semidominant (1;5)
0.647 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
growth/size
limbs/digits/tail phenotype
A ⇒ G critical splice acceptor site probably null
28 UTSW Prkcq 0.000 celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) 0.391 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ G missense possibly damaging 0.822
29 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21), Autosomal Semidominant (8;48)
0.955 2019-09-04
Diantha La Vine
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 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 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
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
A ⇒ G critical splice donor site 2 bp probably null
30 UTSW Cntnap1 0.578 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (1;5) 0.046 2019-09-04
Anne Murray
Body Weight - decreased
A ⇒ G missense probably damaging 0.994
31 UTSW Trpa1 0.150 fear-2 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) no linkage result 2019-09-04
Anne Murray
A ⇒ G critical splice donor site 2 bp probably null
32 UTSW Mlkl 0.089 secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) 0.587 2019-09-04
Diantha La Vine
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
TLR signaling defect: hypersensitivity to CpG + IFNg
A ⇒ G intron probably benign
33 UTSW Ern2 0.100 Ernie2 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
0.505 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G splice site probably benign
34 UTSW Cd8b1 0.079 Carlsbad 6 71322788-71337494 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
0.883 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
35 UTSW
has photo
Fa2h 0.397 sparse 8 111345135-111393824 bp (-) 111355398 Autosomal Recessive (1;4) 0.430 2019-09-04
Anne Murray
skin/coat/nails
A ⇒ G critical splice donor site probably null
36 UTSW Ticam1 0.000 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (2;0)
Autosomal Dominant (2;8)
0.035 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
37 UTSW Adgre1 0.264 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 0.435 2019-09-04
Katherine Timer
FACS macrophages - decreased
A ⇒ G missense unknown
38 UTSW Pax3 0.751 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.999
39 UTSW Fbp1 0.317 fruko 13 62864753-62888282 bp (-) 62875261 Autosomal Recessive (6;51) no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 1.000
40 UTSW Myb 1.000 Huang_river 10 21124935-21160984 bp (-) 21152617 Autosomal Recessive (1;5)
Autosomal Semidominant (3;20)
0.648 2019-09-04
Diantha La Vine
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS IgM MFI - increased
FACS macrophages - decreased
FACS NK cells - increased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
A ⇒ G missense probably damaging 0.998
41 UTSW Pik3cd 0.956 grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
Autosomal Recessive (4;31), Autosomal Semidominant (1;5)
0.846 2019-09-04
Anne Murray
FACS B1 cells - decreased
impaired response to dsDNA- type I IFN production by macrophages
MCMV proliferation in macrophages - increased
MCMV susceptibility
OVA-specific IgE - increased
post-MCMV FACS B1a cells - decreased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably damaging 1.000
42 UTSW Per2 0.261 Kortiku 1 91415982-91459324 bp (-) 91423829 Autosomal Recessive (2;24)
Autosomal Semidominant (2;33)
no linkage result 2019-09-04
Diantha La Vine
A ⇒ G missense probably damaging 1.000
43 UTSW Cngb1 1.000 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (8;61)
Autosomal Semidominant (1;3)
0.640 2019-09-04
Anne Murray
FACS B1a cells - increased
FACS B1b cells - increased
FACS B2 cells - decreased
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
vision/eye
A ⇒ G missense probably damaging 0.998
44 UTSW Pik3ap1 0.000 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 0.461 2019-09-04
Diantha La Vine
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably damaging 0.999
45 UTSW Gys2 0.263 hazelnut 6 142422613-142473109 bp (-) 142449455 Autosomal Recessive (5;26) 0.386 2019-09-04
Anne Murray
30 min GTT hyperoglycemic (female)
FACS IgM MFI - decreased
A ⇒ G missense possibly damaging 0.666
46 UTSW Ighd 0.072 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
Autosomal Semidominant (1;5)
0.595 2019-09-04
Anne Murray
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ G critical splice donor site probably benign
47 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
0.927 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
FACS macrophages - increased
FACS neutrophils - increased
FACS NK cells - increased
total IgE level - increased
A ⇒ G critical splice donor site 2 bp probably null
48 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (7;37)
Autosomal Semidominant (4;19)
0.640 2019-09-04
Anne Murray
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
Body Weight (Female) - decreased
A ⇒ G missense probably damaging 1.000
49 UTSW Prkdc 0.947 screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.587 2019-09-04
Diantha La Vine
post-MCMV FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD44+ T cells - increased
A ⇒ G missense probably benign 0.001
50 UTSW Prkdc 0.947 screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
0.529 2019-09-04
Diantha La Vine
FACS CD44+ CD4 T cells - increased
post-MCMV FACS CD8+ T cells - decreased
post-MCMV FACS pDCs - increased
A ⇒ G splice site 4 bp probably null
51 UTSW Ntmt1 0.422 puny 2 30807826-30823033 bp (+) 30822365 Unknown (1;0)
Autosomal Recessive (11;73), Autosomal Semidominant (2;5)
0.775 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS IgD MFI - decreased
FACS NK cells - decreased
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
TLR signaling defect: hyposensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 0.995
52 UTSW Prkcd 0.598 rigged2 14 30595354-30626210 bp (-) 30599743 Autosomal Recessive (2;11)
Autosomal Semidominant (1;5)
0.871 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
A ⇒ G missense probably damaging 1.000
53 UTSW Adgre1 0.264 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 0.307 2019-09-04
Anne Murray
FACS macrophages - decreased
A ⇒ G missense possibly damaging 0.899
54 UTSW Tcf7l2 1.000 banned 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (2;10) 0.595 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G critical splice acceptor site probably null
55 UTSW Ptprc 0.000 guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (20;106)
Autosomal Semidominant (2;10)
0.913 2019-09-04
Diantha La Vine
DSS: sensitive day 7
FACS B cells - decreased
FACS B1 cells - increased
FACS B1a cells in B1 cells - decreased
FACS B1b cells - increased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - decreased
FACS B220 MFI - 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 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 NK cells - increased
FACS T cells - decreased
NALP3 inflammasome signaling defect
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ G missense probably damaging 0.971
56 UTSW Trpa1 0.150 petrified 1 14872648-14918862 bp (-) 14884116 Autosomal Recessive (1;7) no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 1.000
57 UTSW Aicda 0.000 bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (2;8)
Autosomal Recessive (8;44), Autosomal Semidominant (1;9)
0.796 2019-09-04
Anne Murray
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
OVA-specific IgE - 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
TLR signaling defect: hypersensitivity to LPS
TLR signaling defect: hypersensitivity to PAM3CSK4
TLR signaling defect: TNF production by macrophages
Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
total IgE level - decreased
A ⇒ G missense probably benign 0.029
58 UTSW Mlh1 0.000 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 0.731 2019-09-04
Anne Murray
FACS B:T 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
T-dependent humoral response defect- decreased antibody response to rSFV
total IgE level - decreased
A ⇒ G critical splice donor site probably null
59 UTSW Pax5 1.000 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
0.905 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4+ T cells - increased
FACS CD44+ CD4 MFI - decreased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - 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
A ⇒ G start codon destroyed probably null 0.960
60 UTSW Rac2 0.000 Lamb 15 78559167-78572783 bp (-) 78564934 Autosomal Recessive (2;9) 0.725 2019-09-04
Anne Murray
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - increased
A ⇒ G missense possibly damaging 0.682
61 UTSW Mlh1 0.000 andalusia 9 111228228-111271791 bp (-) 111271410 Autosomal Recessive (1;6) 0.706 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ G makesense probably null
62 UTSW Cd22 0.000 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9;92) 0.846 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM MFI - decreased
FACS IgM+ B cells - decreased
FACS T cells - increased
A ⇒ G missense probably damaging 1.000
63 UTSW Cdh17 0.083 Disruptive 4 11758147-11817895 bp (+) 11784654 Autosomal Dominant (1;1)
Autosomal Semidominant (2;11)
0.627 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS IgD MFI - increased
A ⇒ G missense probably damaging 1.000
64 UTSW Insr 0.839 Patently 8 3122061-3279617 bp (-) 3159475 Unknown failed initial filter 2019-09-04
Diantha La Vine
DSS: sensitive day 7
A ⇒ G missense probably damaging 1.000
65 UTSW Slc5a2 0.000 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
Autosomal Semidominant (1;4)
0.524 2019-09-04
Anne Murray
Body Weight - increased
DSS: sensitive day 10
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: TNF production by macrophages
A ⇒ G splice site probably null
66 UTSW Hr 0.000 angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (6;36)
Autosomal Semidominant (1;5)
0.826 2019-09-04
Anne Murray
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
A ⇒ G missense probably damaging 0.973
67 UTSW Il2rb 0.094 flybase 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (45;493) 0.936 2019-09-04
Diantha La Vine
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B220 MFI - increased
FACS CD44+ CD4 MFI - increased
FACS CD44+ CD4 T cells - increased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD44+ T MFI - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgM+ B cells - decreased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
NK cell response - decreased
NK killing - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
A ⇒ G start codon destroyed probably null 0.663
68 UTSW Ednrb 0.803 sposh 14 103814625-103844402 bp (-) 103821714 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.974
69 UTSW Stat1 0.000 special 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (7;44)
Autosomal Recessive (15;194), Autosomal Semidominant (3;33)
0.764 2019-09-04
Anne Murray
CTL killing - increased
CTL killing dominant epitope - increased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - 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 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 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 - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - decreased
A ⇒ G missense probably damaging 1.000
70 UTSW Nek8 0.906 nerkkod 11 78166106-78176675 bp (-) 78173059 Autosomal Recessive (29;218) 0.615 2019-09-04
Anne Murray
Body Weight (DSS Male) - decreased
Body Weight (DSS) - decreased
DSS: sensitive day 10
DSS: sensitive day 7
FACS B220 MFI - decreased
FACS CD4:CD8 - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - increased
A ⇒ G missense probably damaging 1.000
71 UTSW Atm 0.893 mockingbird2 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (8;101) 0.916 2019-09-04
Diantha La Vine
FACS B:T cells - increased
FACS CD4+ T cells - decreased
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 CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
A ⇒ G missense probably damaging 1.000
72 UTSW
has video
Cacna1a 0.935 totter 8 84388440-84640246 bp (+) 84588753 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.989
73 UTSW
has photo
Dclre1c 0.295 pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (55;675) 0.964 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK1.1+ T cells - decreased
FACS T cells - decreased
growth/size
skin/coat/nails
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
total IgE level - increased
A ⇒ G missense probably damaging 1.000
74 UTSW Mchr1 0.066 Ketogenic 15 81235499-81238964 bp (+) 81237868 Autosomal Semidominant (2;10) 0.186 2019-09-04
Anne Murray
Body Weight (Z-score) - decreased
A ⇒ G missense probably damaging 0.999
75 UTSW Pik3ap1 0.000 Pintail 19 41274218-41385070 bp (-) 41376146 Autosomal Dominant (1;12) 0.266 2019-09-04
Anne Murray
FACS B1 cells - decreased
A ⇒ G missense probably benign 0.003
76 UTSW Siglecg 0.078 Sherando 7 43408204-43418358 bp (+) 43409057 Autosomal Semidominant (1;5) 0.926 2019-09-04
Diantha La Vine
FACS B1 cells - increased
A ⇒ G missense possibly damaging 0.636
77 UTSW Dock8 0.083 Defenseless 19 24999529-25202432 bp (+) 25051563 Autosomal Dominant (1;4) 0.825 2019-09-04
Diantha La Vine
FACS CD8+ T cells - decreased
A ⇒ G missense probably benign 0.002
78 UTSW Ebf1 0.904 Befuddled 11 44617317-45008091 bp (+) 44632775 Autosomal Dominant (6;31) 0.804 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS IgD MFI - decreased
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
A ⇒ G missense probably damaging 0.982
79 UTSW Itgam 0.116 apparition 7 128062640-128118491 bp (+) 128112286 Autosomal Recessive (1;4) 0.760 2019-09-04
Anne Murray
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
A ⇒ G splice site 4 bp probably null
80 UTSW Jak3 0.721 Deposuit 8 71676296-71690575 bp (+) 71685404 Autosomal Semidominant (1;6) 0.783 2019-09-04
Anne Murray
FACS NK1.1+ T cells - decreased
A ⇒ G missense probably damaging 0.997
81 UTSW Mlkl 0.089 Ghoulish 8 111311797-111338177 bp (-) 111322748 Autosomal Semidominant (1;4) 0.572 2019-09-04
Anne Murray
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
A ⇒ G missense probably damaging 0.999
82 UTSW Pappa 0.728 Maennel 4 65124174-65357509 bp (+) 65314587 Autosomal Dominant (1;4) 0.610 2019-09-04
Diantha La Vine
Body Weight (Male) - decreased
A ⇒ G missense probably benign 0.055
83 UTSW Ppp3cb 0.000 Havana 14 20499364-20546573 bp (-) 20531752 Autosomal Semidominant (4;15) 0.749 2019-09-04
Anne Murray
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 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 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
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
A ⇒ G missense possibly damaging 0.853
84 UTSW Siglecg 0.078 Chamonix 7 43408204-43418358 bp (+) 43409422 Autosomal Semidominant (1;4) 0.125 2019-09-04
Anne Murray
FACS B1a cells in B1 cells - increased
A ⇒ G missense possibly damaging 0.908
85 UTSW Stk4 0.000 iwo_jima 2 164070322-164155524 bp (+) 164088959 Autosomal Recessive (5;19) 0.983 2019-09-04
Anne Murray
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 possibly damaging 0.939
86 UTSW Tg 0.131 sariba 15 66670753-66850721 bp (+) 66694870 Autosomal Recessive (1;4) 0.453 2019-09-04
Anne Murray
FACS CD44+ T cells - increased
A ⇒ G missense probably benign 0.010
87 UTSW Tg 0.131 Papua 15 66670753-66850721 bp (+) 66674050 Autosomal Dominant (1;5) 0.376 2019-09-04
Anne Murray
FACS central memory CD4 T cells in CD4 T cells - increased
A ⇒ G missense probably damaging 1.000
88 UTSW Tnfsf13b 0.096 arrested 8 10006467-10039072 bp (+) 10031545 Autosomal Recessive (3;14) 0.642 2019-09-04
Anne Murray
FACS B cells - decreased
FACS B:T cells - decreased
FACS IgM+ B cells - decreased
A ⇒ G missense possibly damaging 0.480
89 UTSW Vav1 0.270 Late 17 57279100-57328031 bp (+) 57301870 Autosomal Semidominant (1;4) 0.814 2019-09-04
Anne Murray
FACS CD8+ T cells - decreased
A ⇒ G missense possibly damaging 0.912
90 UTSW Jak3 0.721 Implevit 8 71676296-71690575 bp (+) 71678773 Autosomal Semidominant (1;4) 0.642 2019-09-04
Anne Murray
FACS CD44+ CD4 MFI - increased
A ⇒ G missense probably benign 0.000
91 UTSW Polm 0.000 gott 11 5827860-5838016 bp (-) 5829512 Autosomal Recessive (1;3) 0.273 2019-09-04
Anne Murray
FACS B cells - decreased
A ⇒ G missense possibly damaging 0.458
92 UTSW Pi4ka 1.000 arachnoid 16 17280351-17406314 bp (-) 17285281 Autosomal Recessive (3;13) 0.247 2019-09-04
Diantha La Vine
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
A ⇒ G unclassified probably benign
93 UTSW Plcg2 0.000 trident 8 117498291-117635142 bp (+) 117612978 Autosomal Recessive (2;9) 0.029 2019-09-04
Anne Murray
Blood Analysis MCHC - decreased
Blood Analysis Platelet Count - decreased
FACS B1 cells - decreased
FACS B1a cells - decreased
FACS B1a cells in B1 cells - decreased
FACS B1b cells in B1 cells - decreased
FACS B2 cells - increased
FACS CD44+ CD4 T cells - decreased
FACS CD44+ CD8 MFI - decreased
FACS CD44+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
FACS CD8a+ DCs (gated in CD11c+ cells) - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD8 T cells in CD8 T cells - increased
FACS IgD MFI - decreased
FACS IgM MFI - increased
FACS IgM+ B cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
IgE response to a Cysteine Protease (Papain) - increased
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
NLRP3 inflammasome: high response
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
TLR signaling defect: hypersensitivity to CpG + IFNg
TLR signaling defect: hyposensitivity to R848
A ⇒ G missense probably benign 0.004
94 UTSW Ppp3cb 0.000 justinian 14 20499364-20546573 bp (-) 20508543 Unknown 0.285 2019-09-04
Anne Murray
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 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 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
IgG1 response to a Cysteine Protease (Papain) - decreased
OVA-specific IgE - increased
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
total IgE level - increased
A ⇒ G missense possibly damaging 0.734
95 UTSW
has photo
Arcn1 0.000 greyhound 9 44741564-44767845 bp (-) 44750394 Unknown failed initial filter 2019-09-04
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ G missense possibly damaging 0.917
96 UTSW Zap70 0.204 want_to 1 36761798-36782818 bp (+) 36782517 Autosomal Recessive (4;26) 0.666 2019-09-04
Anne Murray
FACS CD44+ CD8 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
A ⇒ G missense probably damaging 1.000
97 UTSW Dock2 0.000 muelle 11 34226815-34783892 bp (-) 34687538 Autosomal Recessive (14;153)
Autosomal Semidominant (4;30)
0.876 2019-09-04
Diantha La Vine
FACS B cells - decreased
FACS B:T cells - decreased
FACS B1 cells - increased
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD4+ T cells - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD4 MFI - increased
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 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 naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
A ⇒ G missense probably damaging 1.000
98 UTSW Nfkb2 0.592 Nabukov 19 46304737-46312090 bp (+) 46308439 Autosomal Semidominant (3;13) 0.622 2019-09-04
Diantha La Vine
FACS CD4+ T cells - increased
FACS CD8+ T cells - increased
FACS T cells - increased
A ⇒ G missense probably damaging 0.991
99 UTSW Ttc21b 1.000 plus-sized 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (3;29) 0.529 2019-08-15
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
A ⇒ G missense probably damaging 0.998
100 UTSW
has video
Wdr81 1.000 jello 11 75440944-75454717 bp (-) 75441812 Autosomal Dominant (1;5)
Autosomal Recessive (4;22)
0.746 2019-08-15
External Program
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
dsDNA induced type I IFN production - decreased
impaired response to dsDNA- type I IFN production by macrophages
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
A ⇒ G missense probably damaging 1.000
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