Phenotypic Mutations

144 mutations affecting 114 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 145] 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 (7;44)
Autosomal Semidominant (15;83)
0.976 2022-04-12
External Program
FACS B:T cells - decreased
FACS B1 cells - decreased
FACS B220 MFI - increased
FACS CD4:CD8 - decreased
FACS CD4+ T cells in CD3+ T cells - decreased
FACS CD44+ CD8 MFI - increased
FACS CD44+ T cells - increased
FACS CD8+ T cells - increased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - increased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS naive CD4 T cells in CD4 T cells - decreased
FACS naive CD8 T cells in CD8 T cells - decreased
FACS T cells - increased
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G critical splice donor site 2 bp probably null
2 UTSW Ttc21b 1.000 plus-sized 2 66184327-66256617 bp (-) 66242679 Autosomal Recessive (3;29) 0.484 2022-04-12
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
A ⇒ G missense probably damaging 0.998
3 UTSW Wdr81 1.000 jello 11 75440944-75454717 bp (-) 75441812 Autosomal Dominant (1;5)
Autosomal Recessive (4;22)
0.812 2022-04-12
External Program
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - 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
4 UTSW Bcl10 0.000 Derek 3 145922804-145934356 bp (+) 145930587 Autosomal Recessive (13;147)
Autosomal Semidominant (2;11)
0.907 2022-04-12
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
5 UTSW Lrp5 0.897 lucent 19 3584828-3686564 bp (-) 3686353 Autosomal Recessive (10;58) 0.629 2022-04-02
Stephen Lyon
Bone: Hind Hip Distance (AI) - increased
Bone: Hip Ratio (AI) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
A ⇒ G critical splice donor site 2 bp probably null
6 UTSW Arcn1 0.000 greyhound 9 44741564-44767845 bp (-) 44750394 Unknown failed initial filter 2022-03-09
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ G missense possibly damaging 0.917
7 UTSW Alx4 0.584 goofy 2 93642384-93681339 bp (+) 93675369 Unknown no linkage results 2021-11-17
Diantha La Vine
craniofacial
limbs/digits/tail phenotype
A ⇒ G missense probably damaging 1.000
8 UTSW Aicda 0.000 bellezza 6 122553801-122564180 bp (+) 122561185 Autosomal Dominant (2;8)
Autosomal Recessive (8;44), Autosomal Semidominant (1;9)
0.749 2021-11-15
Diantha La Vine
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
9 UTSW Adra2a 0.000 splenda 19 54045182-54048982 bp (+) 54046495 Autosomal Recessive (6;32)
Autosomal Semidominant (2;11)
0.704 2021-11-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
A ⇒ G missense probably damaging 1.000
10 UTSW Adgre1 0.322 Scallion 17 57358686-57483529 bp (+) 57401977 Autosomal Semidominant (1;10) 0.286 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense possibly damaging 0.899
11 UTSW Adgre1 0.322 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 0.418 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense unknown
12 UTSW Adgre1 0.322 F480 17 57358686-57483529 bp (+) 57444063 Unknown no linkage results 2021-11-01
Diantha La Vine
immune system
normal phenotype
A ⇒ G missense probably damaging 1.000
13 UTSW Atm 0.906 Tropo 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no linkage result 2020-12-09
External Program
A ⇒ G missense probably damaging 1.000
14 UTSW Stk4 0.000 Sergeant 2 164070322-164155524 bp (+) 164099712 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.934 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
15 UTSW Inpp5d 0.875 sailing 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
Autosomal Recessive (3;21)
0.888 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
16 UTSW Syk 1.000 Sisyphus 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
Autosomal Dominant (1;6)
0.232 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
17 UTSW Prkcd 0.478 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.882 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
18 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
19 UTSW Nlrc4 0.168 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
20 UTSW Hps5 0.094 Titan 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.218 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
21 UTSW Jak3 0.753 mount_tai 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
0.977 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
22 UTSW Insr 0.883 gummi_bear 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
Autosomal Semidominant (1;2)
0.758 2019-09-04
Diantha La Vine
DSS: sensitive day 10
DSS: sensitive day 7
FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
23 UTSW Nlrp3 0.104 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
24 UTSW 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
25 UTSW Scn8a 0.794 nymph 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
Autosomal Recessive (1;5)
0.152 2019-09-04
Anne Murray
behavior/neurological
Body Weight - decreased
growth/size
A ⇒ G missense probably damaging 1.000
26 UTSW Sppl2a 0.074 abra 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (3;13) 0.839 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
27 UTSW Nr3c2 1.000 naughty 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) 0.150 2019-09-04
Bruce Beutler
Body Weight - decreased
growth/size
A ⇒ G splice site probably null
28 UTSW Nlrp3 0.104 Park4 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
0.738 2019-09-04
Diantha La Vine
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
29 UTSW Diaph1 0.000 Guangzhou 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
Autosomal Dominant (1;5), Autosomal Semidominant (9;37)
0.978 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
30 UTSW Fcer2a 0.000 arum 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) 0.086 2019-09-04
Bruce Beutler
FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
31 UTSW Atp2b2 0.884 lohan 6 113743831-114042613 bp (-) 113760650 Autosomal Recessive (2;6) 0.315 2019-09-04
Diantha La Vine
behavior/neurological
Body Weight - decreased
hearing/vestibular/ear
A ⇒ G missense probably damaging 1.000
32 UTSW Tlr3 0.088 Rakshasa 8 45395665-45411080 bp (-) 45397697 Autosomal Dominant (1;4) 0.033 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
33 UTSW Ikbkb 1.000 Impaired 8 22659212-22706589 bp (-) 22666020 Autosomal Recessive (2;8)
Autosomal Semidominant (5;22)
0.842 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
34 UTSW Kbtbd2 0.000 infinitesimal 6 56777524-56797813 bp (-) 56779090 Autosomal Recessive (10;58) 0.978 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
Body Weight (Z-score, male) - decreased
growth/size
MCMV susceptibility
A ⇒ G missense probably damaging 0.996
35 UTSW Slc13a5 0.000 Punk 11 72241989-72267222 bp (-) 72262076 Autosomal Recessive (1;4)
Autosomal Semidominant (4;19)
0.604 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
36 UTSW Itk 0.144 itxaro 11 46325150-46389515 bp (-) 46338217 Autosomal Recessive (10;58) 0.967 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
37 UTSW Rc3h1 0.293 curlyfry 1 160906418-160974978 bp (+) 160959399 Unknown (1;0)
Autosomal Recessive (5;28), Autosomal Semidominant (2;10)
0.504 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, male) - decreased
growth/size
limbs/digits/tail phenotype
A ⇒ G critical splice acceptor site probably null
38 UTSW Prkcq 0.000 celina 2 11172108-11301222 bp (+) 11283849 Autosomal Recessive (1;6) 0.504 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
A ⇒ G missense possibly damaging 0.822
39 UTSW Ppp3cb 0.000 Copacabana 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
Autosomal Recessive (4;21), Autosomal Semidominant (8;48)
0.950 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
40 UTSW Cntnap1 0.568 Penny 11 101170523-101190724 bp (+) 101186764 Autosomal Semidominant (1;5) 0.026 2019-09-04
Anne Murray
Body Weight - decreased
A ⇒ G missense probably damaging 0.994
41 UTSW Trpa1 0.107 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
42 UTSW Mlkl 0.076 secro 8 111311797-111338177 bp (-) 111315567 Autosomal Recessive (2;27) 0.588 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
43 UTSW Ern2 0.090 Ernie2 7 122169893-122186207 bp (-) 122180862 Autosomal Dominant (1;1)
Autosomal Semidominant (1;4)
0.256 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G splice site probably benign
44 UTSW Cd8b1 0.065 Carlsbad 6 71322788-71337494 bp (+) 71334101 Autosomal Recessive (1;4)
Autosomal Semidominant (3;15)
0.823 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
45 UTSW Fa2h 0.357 sparse 8 111345135-111393824 bp (-) 111355398 Autosomal Recessive (1;4) 0.426 2019-09-04
Anne Murray
skin/coat/nails
A ⇒ G critical splice donor site probably null
46 UTSW Ticam1 0.000 Yue 17 56269319-56276786 bp (-) 56271339 Unknown (2;0)
Autosomal Dominant (2;8)
0.050 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
47 UTSW Pax3 0.837 Nidoqueen 1 78101267-78197134 bp (-) 78132232 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.999
48 UTSW Fbp1 0.332 fruko 13 62864753-62888282 bp (-) 62875261 Autosomal Recessive (4;36) no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 1.000
49 UTSW Myb 1.000 Huang_river 10 21124935-21160984 bp (-) 21152617 Autosomal Recessive (1;5)
Autosomal Semidominant (2;15)
0.543 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
50 UTSW Pik3cd 0.958 grand_tetons 4 149649168-149702571 bp (-) 149652699 Autosomal Dominant (1;4)
Autosomal Recessive (3;23), Autosomal Semidominant (1;5)
0.847 2019-09-04
Anne Murray
FACS B1 cells - decreased
impaired response to dsDNA- type I IFN production by macrophages
MCMV proliferation in macrophages - increased
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
51 UTSW Per2 0.196 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
52 UTSW Cngb1 1.000 stevie 8 95239045-95306585 bp (-) 95260130 Autosomal Recessive (3;21) 0.423 2019-09-04
Anne Murray
FACS B1a cells - increased
vision/eye
A ⇒ G missense probably damaging 0.998
53 UTSW Pik3ap1 0.000 sooni 19 41274218-41385070 bp (-) 41327909 Autosomal Recessive (3;16) 0.475 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
54 UTSW Gys2 0.272 hazelnut 6 142422613-142473109 bp (-) 142449455 Autosomal Recessive (4;22) failed initial filter 2019-09-04
Anne Murray
30 min GTT hyperoglycemic (female)
A ⇒ G missense possibly damaging 0.666
55 UTSW Ighd 0.076 surface2 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (2;8)
Autosomal Semidominant (1;5)
0.491 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
56 UTSW Dock2 0.000 denali 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
Autosomal Semidominant (5;25)
0.951 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
57 UTSW Prkdc 0.949 screamer4 16 15637866-15842235 bp (+) 15783079 Autosomal Recessive (1;4)
Autosomal Semidominant (1;4)
0.657 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
58 UTSW Prkdc 0.949 screamer7 16 15637866-15842235 bp (+) 15654817 Autosomal Recessive (2;8)
Autosomal Semidominant (1;6)
0.672 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
59 UTSW Ntmt1 0.264 puny 2 30807826-30823033 bp (+) 30822365 Unknown (2;0)
Autosomal Recessive (13;91), Autosomal Semidominant (1;3)
0.811 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 (DSS, z-score, female) - decreased
Body Weight (DSS, z-score, male) - decreased
Body Weight (Female) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Body Weight (Z-score, male) - decreased
FACS IgD MFI - decreased
NALP3 inflammasome signaling defect
Nlrc4 inflammasome: high response
NLRP3 inflammasome: high response
TLR signaling defect: hyposensitivity to LPS
TLR signaling defect: TNF production by macrophages
A ⇒ G missense probably damaging 0.995
60 UTSW Prkcd 0.478 rigged2 14 30595354-30626210 bp (-) 30599743 Autosomal Recessive (2;11)
Autosomal Semidominant (2;11)
0.909 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS NK cells - decreased
T-independent B cell response defect- increased TNP-specific IgM to TNP-Ficoll immunization
A ⇒ G missense probably damaging 1.000
61 UTSW Tcf7l2 1.000 banned 19 55741810-55933654 bp (+) 55931432 Autosomal Recessive (2;10) 0.517 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
A ⇒ G critical splice acceptor site probably null
62 UTSW Ptprc 0.000 guotie2 1 138062861-138175708 bp (-) 138094299 Autosomal Recessive (20;106)
Autosomal Semidominant (2;10)
0.938 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
63 UTSW Trpa1 0.107 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
64 UTSW Mlh1 0.000 andalusia3 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) 0.887 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
65 UTSW Pax5 1.000 glacier2 4 44524757-44710487 bp (-) 44710407 Autosomal Recessive (13;215)
Autosomal Semidominant (2;32)
0.873 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
66 UTSW Rac2 0.000 Lamb 15 78559167-78572783 bp (-) 78564934 Autosomal Recessive (2;9) 0.662 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
67 UTSW Mlh1 0.000 andalusia 9 111228228-111271791 bp (-) 111271410 Autosomal Recessive (1;6) 0.887 2019-09-04
Anne Murray
T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ G makesense probably null
68 UTSW Cd22 0.000 rain 7 30865402-30880342 bp (-) 30877534 Autosomal Recessive (9;92) 0.890 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
69 UTSW Cdh17 0.114 Disruptive 4 11758147-11817895 bp (+) 11784654 Autosomal Dominant (1;1)
Autosomal Semidominant (2;11)
0.598 2019-09-04
Anne Murray
DSS: sensitive day 10
DSS: sensitive day 7
FACS IgD MFI - increased
A ⇒ G missense probably damaging 1.000
70 UTSW Insr 0.883 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
71 UTSW Slc5a2 0.000 dregs 7 128265657-128272430 bp (+) 128267505 Autosomal Recessive (3;24)
Autosomal Semidominant (1;4)
0.421 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
72 UTSW Hr 0.000 angie 14 70552212-70573548 bp (+) 70567833 Autosomal Recessive (8;44) 0.915 2019-09-04
Anne Murray
Body Weight (DSS Male) - decreased
Body Weight (DSS, z-score, 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 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+ CD8 T cells - decreased
FACS CD44+ T cells - decreased
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 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
73 UTSW Il2rb 0.083 flybase 15 78479256-78495271 bp (-) 78491848 Autosomal Recessive (69;648)
Autosomal Semidominant (1;4)
0.953 2019-09-04
Diantha La Vine
Body Weight (BP, z-score, female) - decreased
Body Weight (DSS Female) - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
Body Weight (DSS, z-score, female) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - 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 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 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
74 UTSW Ednrb 0.728 sposh 14 103814625-103844402 bp (-) 103821714 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.974
75 UTSW Stat1 0.000 special 1 52119440-52161865 bp (+) 52139264 Autosomal Dominant (7;44)
Autosomal Recessive (16;198), Autosomal Semidominant (3;33)
0.864 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
76 UTSW Nek8 0.908 nerkkod 11 78166106-78176675 bp (-) 78173059 Autosomal Dominant (3;17)
Autosomal Recessive (50;357), Autosomal Semidominant (6;40)
0.639 2019-09-04
Anne Murray
Body Weight (BP, z-score, male) - decreased
Body Weight (DSS Male) - decreased
Body Weight (DSS, z-score, male) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - 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
A ⇒ G missense probably damaging 1.000
77 UTSW Atm 0.906 mockingbird2 9 53439149-53536740 bp (-) 53488587 Autosomal Recessive (8;101) 0.930 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
78 UTSW Cacna1a 0.916 totter 8 84388440-84640246 bp (+) 84588753 Unknown no linkage result 2019-09-04
Anne Murray
A ⇒ G missense probably damaging 0.989
79 UTSW Dclre1c 0.385 pee-wee 2 3424131-3464130 bp (+) 3437705 Autosomal Recessive (111;1038) 0.974 2019-09-04
Anne Murray
Body Weight - decreased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, z-score, male) - decreased
Body Weight (Male) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, male) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual) - decreased
Bone: Tibia Length (AI, residual, female) - 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
80 UTSW Mchr1 0.077 Ketogenic 15 81235499-81238964 bp (+) 81237868 Autosomal Semidominant (3;16) 0.288 2019-09-04
Anne Murray
Body Weight (Z-score) - decreased
A ⇒ G missense probably damaging 0.999
81 UTSW Pik3ap1 0.000 Pintail 19 41274218-41385070 bp (-) 41376146 Autosomal Dominant (1;12) 0.069 2019-09-04
Anne Murray
FACS B1 cells - decreased
A ⇒ G missense probably benign 0.003
82 UTSW Siglecg 0.067 Sherando 7 43408204-43418358 bp (+) 43409057 Autosomal Semidominant (1;5) 0.866 2019-09-04
Diantha La Vine
FACS B1 cells - increased
A ⇒ G missense possibly damaging 0.636
83 UTSW Dock8 0.072 Defenseless 19 24999529-25202432 bp (+) 25051563 Autosomal Dominant (1;4) 0.682 2019-09-04
Diantha La Vine
FACS CD8+ T cells - decreased
A ⇒ G missense probably benign 0.002
84 UTSW Ebf1 0.888 Befuddled 11 44617317-45008091 bp (+) 44632775 Autosomal Dominant (6;31) 0.779 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
85 UTSW Itgam 0.109 apparition 7 128062640-128118491 bp (+) 128112286 Autosomal Recessive (1;4) 0.728 2019-09-04
Anne Murray
FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
A ⇒ G splice site 4 bp probably null
86 UTSW Jak3 0.753 Deposuit 8 71676296-71690575 bp (+) 71685404 Autosomal Semidominant (1;6) 0.831 2019-09-04
Anne Murray
FACS NK1.1+ T cells - decreased
A ⇒ G missense probably damaging 0.997
87 UTSW Mlkl 0.076 Ghoulish 8 111311797-111338177 bp (-) 111322748 Autosomal Semidominant (1;4) 0.892 2019-09-04
Anne Murray
LPS-induced Necroptosis - decreased
Macrophage necroptosis: low
A ⇒ G missense probably damaging 0.999
88 UTSW Pappa 0.000 Maennel 4 65124174-65357509 bp (+) 65314587 Autosomal Dominant (2;8) 0.496 2019-09-04
Diantha La Vine
Body Weight (Male) - decreased
Body Weight (Z-score, male) - decreased
A ⇒ G missense probably benign 0.055
89 UTSW Ppp3cb 0.000 Havana 14 20499364-20546573 bp (-) 20531752 Autosomal Semidominant (4;15) 0.682 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
90 UTSW Siglecg 0.067 Chamonix 7 43408204-43418358 bp (+) 43409422 Autosomal Semidominant (1;4) 0.100 2019-09-04
Anne Murray
FACS B1a cells in B1 cells - increased
A ⇒ G missense possibly damaging 0.908
91 UTSW Stk4 0.000 iwo_jima 2 164070322-164155524 bp (+) 164088959 Autosomal Recessive (5;19) 0.976 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
92 UTSW Tg 0.115 sariba 15 66670753-66850721 bp (+) 66694870 Autosomal Recessive (1;4) 0.662 2019-09-04
Anne Murray
FACS CD44+ T cells - increased
A ⇒ G missense probably benign 0.010
93 UTSW Tg 0.115 Papua 15 66670753-66850721 bp (+) 66674050 Autosomal Dominant (1;5) 0.510 2019-09-04
Anne Murray
FACS central memory CD4 T cells in CD4 T cells - increased
A ⇒ G missense probably damaging 1.000
94 UTSW Tnfsf13b 0.076 arrested 8 10006467-10039072 bp (+) 10031545 Autosomal Recessive (3;14) 0.591 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
95 UTSW Vav1 0.358 Late 17 57279100-57328031 bp (+) 57301870 Autosomal Semidominant (1;4) 0.677 2019-09-04
Anne Murray
FACS CD8+ T cells - decreased
A ⇒ G missense possibly damaging 0.912
96 UTSW Jak3 0.753 Implevit 8 71676296-71690575 bp (+) 71678773 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.794 2019-09-04
Anne Murray
DSS: sensitive day 7
FACS CD44+ CD4 MFI - increased
A ⇒ G missense probably benign 0.000
97 UTSW Polm 0.000 gott 11 5827860-5838016 bp (-) 5829512 Autosomal Recessive (1;3) 0.164 2019-09-04
Anne Murray
FACS B cells - decreased
A ⇒ G missense possibly damaging 0.458
98 UTSW Pi4ka 1.000 arachnoid 16 17280351-17406314 bp (-) 17285281 Autosomal Recessive (3;13) 0.137 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
99 UTSW Plcg2 0.000 trident 8 117498291-117635142 bp (+) 117612978 Autosomal Recessive (2;9) 0.027 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
100 UTSW Ppp3cb 0.000 justinian 14 20499364-20546573 bp (-) 20508543 Unknown 0.147 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
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