Phenotypic Mutations

848 mutations affecting 361 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 850] per page Full List
 




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Verification Probability

Phenotypic Category

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1 UTSW
has photohas video
Ctsl 1.000 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (15;273) 0.565 2021-01-25
Darui Xu
 FACS B1 cells - decreased
 FACS B1a cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 T cells - 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 CD8 T cells in CD8 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - increased
 FACS T cells - decreased
 skin/coat/nails
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ A nonsense probably null
2 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 72015636 Autosomal Recessive (2;17)
Autosomal Semidominant (14;79)
0.959 2021-01-12
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
3 UTSW Atm 0.866 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 Bcl10 0.000 3 145922804-145934356 bp (+) 145930587 Autosomal Dominant (1;4)
Autosomal Recessive (13;147), Autosomal Semidominant (2;11)
0.879 2020-08-26
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
5 UTSW Gys2 0.311 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (1;4) 0.053 2020-08-26
External Program
 30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
6 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164099712 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.860 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
7 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
Autosomal Semidominant (2;11)
0.893 2020-07-29
External Program
 FACS B cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - increased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ T nonsense probably null
8 UTSW Pi4ka 1.000 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.273 2020-07-29
External Program
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 MTT Value of PECs - decreased
C ⇒ T missense probably damaging 0.997
9 UTSW Tap2 0.121 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
0.331 2020-07-29
External Program
 FACS CD4+ T cells - increased
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
C ⇒ A missense possibly damaging 0.638
10 UTSW Ebf1 0.918 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (14;96)
Autosomal Semidominant (4;22)
0.959 2020-07-29
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
11 UTSW
has photo
Mbtps1 1.000 8 119508156-119558735 bp (-) 119538137 Autosomal Dominant (2;2)
Autosomal Recessive (2;9)
failed initial filter 2020-07-29
External Program
 pigmentation
 skin/coat/nails
G ⇒ A missense probably damaging 1.000
12 UTSW Bcl3 0.000 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.696 2020-07-29
External Program
 FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
13 UTSW Ifngr1 0.000 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.511 2020-07-29
External Program
 FACS IgD+ B cell percentage - increased
 FACS IgM+ B cells - increased
 FACS macrophages - decreased
 TLR signaling defect: hyposensitivity to poly I:C + IFNg
 TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site probably null
14 UTSW Pax5 1.000 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
0.832 2020-07-29
External Program
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells in B1 cells - decreased
T ⇒ A missense probably damaging 0.996
15 UTSW
has photo
Tmprss6 0.098 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
Autosomal Semidominant (1;4)
0.396 2020-07-29
External Program
 FACS T cells - decreased
 skin/coat/nails
T ⇒ A splice site probably null
16 UTSW Prkdc 0.954 16 15637866-15842235 bp (+) 15829697 Autosomal Recessive (2;9)
Autosomal Semidominant (1;4)
0.562 2020-07-29
External Program
 Body Weight (Female) - increased
 FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
17 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.930 2020-07-29
External Program
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
18 UTSW Pik3r1 0.000 13 101680563-101768217 bp (-) 101701732 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.146 2020-07-29
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 FACS CD4+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 resistance to B10-F16 melanoma - decreased
A ⇒ T missense probably damaging 1.000
19 UTSW Dck 0.000 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.971 2020-07-01
External Program
 Body Weight - decreased
 Body Weight (Z-score) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS NK cells - increased
 OVA-specific IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - increased
T ⇒ C missense probably damaging 1.000
20 UTSW Inpp5d 0.841 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) no linkage results 2020-06-05
Thomas Gallagher
 CTL killing - decreased
 growth/size
 hematopoietic system
 homeostasis/metabolism
 immune system
 life span-post-weaning/aging
 respiratory system
T ⇒ A critical splice donor site 2 bp probably benign
21 UTSW Inpp5d 0.841 1 87620312-87720507 bp (+) 87705964 Autosomal Dominant (2;10)
Autosomal Recessive (3;21)
0.915 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
22 UTSW Inpp5d 0.841 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (2;11)
0.878 2020-06-05
Thomas Gallagher
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
G ⇒ A critical splice donor site 1 bp probably null
23 UTSW Ikzf1 0.000 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (20;151) 0.971 2020-06-04
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 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 - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 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 CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - decreased
 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 - decreased
 FACS NK1.1+ T cells - increased
 FACS T cells - increased
C ⇒ T nonsense probably null
24 UTSW Inpp5d 0.841 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (56;439)
Autosomal Semidominant (3;25)
0.953 2020-05-29
Thomas Gallagher
 Body Weight - decreased
 Body Weight (Female) - decreased
 Body Weight (Male) - decreased
 Body Weight (Z-score) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK1.1+ T cells - decreased
 FACS T cells - decreased
T ⇒ A missense probably damaging 0.999
25 UTSW Inpp5d 0.841 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (1;8) 0.358 2020-05-29
Thomas Gallagher
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
C ⇒ A missense probably damaging 0.998
26 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
Autosomal Semidominant (3;16)
0.959 2020-05-12
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK1.1+ T cells - increased
 Nlrc4 inflammasome: low response
 NLRP3 inflammasome: low response
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to LPS
 TLR signaling defect: hypersensitivity to PAM3CSK4
 TLR signaling defect: hypersensitivity to poly I:C
 TLR signaling defect: hypersensitivity to R848
T ⇒ A critical splice donor site probably null
27 UTSW Pik3r1 0.000 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.970 2020-02-14
External Program
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - increased
 FACS CD4+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 IgE response to a Cysteine Protease (Papain) - increased
 OVA-specific IgE - increased
A ⇒ T nonsense probably null
28 UTSW Smcr8 0.000 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (7;38)
Autosomal Semidominant (1;6)
0.962 2020-02-04
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
T ⇒ C missense probably damaging 1.000
29 UTSW Lrba 0.000 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) 0.898 2020-02-04
External Program
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1b cells in B1 cells - increased
 FACS B220 MFI - increased
 FACS CD11c+ DCs - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
C ⇒ T nonsense probably null
30 UTSW Jak3 0.647 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (31;312), Autosomal Semidominant (1;4)
0.961 2020-01-15
Eva Marie Y. Moresco
 Body Weight (DSS Female) - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 FACS CD11c+ DCs - increased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - decreased
 FACS NK1.1+ T cells - decreased
 FACS T cells - decreased
 IgE response to a Cysteine Protease (Papain) - decreased
 IgG1 response to a Cysteine Protease (Papain) - decreased
 impaired response to dsDNA- type I IFN production by macrophages
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
A ⇒ T critical splice acceptor site probably null
31 UTSW Syk 1.000 13 52583173-52648792 bp (+) 52640790 Unknown (4;0)
Autosomal Dominant (1;6)
0.267 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
32 UTSW Lig4 1.000 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.970 2019-12-05
External Program
 FACS B cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - decreased
 FACS IgM+ B cells - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS NK cells - increased
 FACS T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
T ⇒ C missense probably damaging 1.000
33 UTSW Cd4 0.000 6 124864692-124888221 bp (-) 124867746 Unknown (7;0) no linkage results 2019-11-12
Bruce Beutler
 FACS CD4+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
G ⇒ A nonsense probably null
34 UTSW Pparg 1.000 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (5;20)
0.233 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
35 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (1;7), Autosomal Semidominant (3;11)
0.782 2019-10-29
Diantha La Vine
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS NK cells - decreased
T ⇒ C missense probably damaging 1.000
36 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
no linkage result 2019-10-29
Anne Murray
G ⇒ T missense probably damaging 0.998
37 UTSW Klhl6 0.077 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.907 2019-10-25
Bruce Beutler
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD4 MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS IgM+ B cells - decreased
 FACS T cells - increased
 total IgE level - increased
G ⇒ A nonsense probably null
38 UTSW Il2rb 0.125 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.615 2019-10-23
Diantha La Vine
 DSS: sensitive day 10
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: hyposensitivity to PAM3CSK4
 TLR signaling defect: hyposensitivity to R848
 TLR signaling defect: TNF production by macrophages
 total IgE level - increased
T ⇒ A missense possibly damaging 0.721
39 UTSW
has video
Myo15 0.000 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.134 2019-10-23
Anne Murray
 behavior/neurological
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
40 UTSW
has video
Pcdh15 0.000 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (1;6)
Autosomal Semidominant (2;9)
0.187 2019-10-23
Diantha La Vine
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 OVA-specific IgE after 2nd OVA/Alum - increased
G ⇒ T splice site probably null
41 UTSW Prkcd 0.570 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.832 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
42 UTSW 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
43 UTSW Prkce 0.000 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 0.040 2019-10-23
Anne Murray
 FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
44 UTSW Dst 0.257 1 33908225-34308661 bp (+) 34223795 Autosomal Semidominant (1;1) failed initial filter 2019-10-23
Anne Murray
 behavior/neurological
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
T ⇒ A splice site 9 bp probably null
45 UTSW Zbtb1 0.743 12 76370266-76396950 bp (+) 76385891 Autosomal Recessive (1;6)
Autosomal Semidominant (2;10)
0.058 2019-10-23
Anne Murray
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS NK1.1+ T cells - increased
C ⇒ T missense probably damaging 0.965
46 UTSW Ptpn6 0.495 6 124720707-124738714 bp (-) 124721789 Autosomal Dominant (1;5)
Autosomal Recessive (1;4), Autosomal Semidominant (1;5)
0.270 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
47 UTSW Trpc1 0.181 9 95705082-95750375 bp (-) 95726437 Autosomal Recessive (6;28)
Autosomal Semidominant (5;29)
0.538 2019-10-23
Diantha La Vine
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
T ⇒ C missense probably damaging 1.000
48 UTSW Nlrc4 0.109 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
49 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (8;49)
Autosomal Semidominant (5;25)
0.937 2019-10-23
Diantha La Vine
 FACS B1 cells - decreased
 FACS CD4+ T cells - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ T cells - increased
 FACS CD44+ T MFI - 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 - increased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 total IgE level - decreased
A ⇒ C critical splice donor site probably null
50 UTSW
has photo
Kitl 0.328 10 100015630-100100416 bp (+) 100076906 Unknown (2;0)
Autosomal Dominant (3;8)
failed initial filter 2019-10-23
Anne Murray
 pigmentation
 skin/coat/nails
G ⇒ A critical splice donor site probably null
51 UTSW Rab38 0.597 7 88430273-88491572 bp (+) 88450541 Autosomal Semidominant (1;5) 0.426 2019-10-23
Anne Murray
 pigmentation
 skin/coat/nails
T ⇒ A missense probably damaging 0.995
52 UTSW
has photo
Hps3 0.165 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
53 UTSW Ryr2 1.000 13 11553102-12106945 bp (-) 11555448 Autosomal Dominant (1;4) no linkage result 2019-10-23
Anne Murray
T ⇒ A missense possibly damaging 0.907
54 UTSW Cd8a 0.069 6 71373427-71379173 bp (+) 71373728 Autosomal Recessive (7;49)
Autosomal Semidominant (7;68)
0.894 2019-10-23
Anne Murray
 FACS CD4:CD8 - increased
 FACS CD4+ T cells in CD3+ T cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 MCMV susceptibility
 post-MCMV FACS CD4+ T cells in CD3+ T cells - increased
 post-MCMV FACS CD44+ CD8 MFI - increased
 post-MCMV FACS CD8+ T cells - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - decreased
 post-MCMV FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ A missense probably damaging 0.989
55 UTSW
has photo
Lyst 0.286 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) 0.636 2019-10-14
Diantha La Vine
 FACS CD8a+ DCs (gated in CD11c+ cells) - increased
 FACS pDCs - increased
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
 MCMV susceptibility
 pigmentation
 skin/coat/nails
T ⇒ A critical splice donor site 2 bp probably null
56 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122424977 Autosomal Recessive (3;13)
Autosomal Semidominant (1;4)
0.907 2019-10-14
Diantha La Vine
 FACS CD4+ T cells - increased
 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
57 UTSW Ptpn6 0.495 6 124720707-124738714 bp (-) 124732435 Autosomal Recessive (17;126) 0.966 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ T MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS effector memory CD4 T cells in CD4 T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
T ⇒ C missense probably damaging 1.000
58 UTSW Zeb1 0.905 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
59 UTSW Slc9a8 0.000 2 167421712-167477000 bp (+) 167451296 Unknown 0.305 2019-09-04
External Program
 DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
60 UTSW
has photo
Hps5 0.109 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
Autosomal Recessive (2;6)
0.287 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
61 UTSW Jak3 0.647 8 71676296-71690575 bp (+) 71683377 Autosomal Recessive (28;212)
Autosomal Semidominant (3;15)
0.956 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
62 UTSW Tnfsf13b 0.084 8 10006467-10039072 bp (+) 10031661 Autosomal Recessive (6;46)
Autosomal Semidominant (8;93)
0.873 2019-09-04
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS CD11c+ DCs - increased
 FACS CD8+ T cells - increased
 FACS IgD MFI - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS neutrophils - increased
 FACS T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A splice site 5 bp probably null
63 UTSW Jak3 0.647 8 71676296-71690575 bp (+) 71686976 Autosomal Recessive (2;10)
Autosomal Semidominant (1;5)
0.541 2019-09-04
Diantha La Vine
 cellular phenotype
 FACS B:T cells - increased
 FACS B1b cells - decreased
 FACS CD8+ T cells - decreased
 hematopoietic system
C ⇒ T splice site 4 bp probably benign
64 UTSW Insr 0.904 8 3122061-3279617 bp (-) 3161770 Autosomal Recessive (2;10)
Autosomal Semidominant (1;2)
0.517 2019-09-04
Diantha La Vine
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS neutrophils - increased
A ⇒ G missense probably damaging 1.000
65 UTSW Rac2 0.000 15 78559167-78572783 bp (-) 78564968 Autosomal Recessive (1;6) 0.871 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
66 UTSW
has photo
Tshr 0.349 12 91384563-91549808 bp (+) 91538226 Unknown (1;0)
Autosomal Recessive (2;12)
0.475 2019-09-04
Bruce Beutler
 125-03 Response - increased
 Body Weight (Z-score) - decreased
 endocrine/exocrine gland
 growth/size
C ⇒ A nonsense probably null
67 UTSW Arnt2 1.000 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (3;4)
Autosomal Semidominant (3;17)
0.968 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 DSS: sensitive day 10
 growth/size
 NALP3 inflammasome signaling defect
 NK cell response - decreased
 NK killing - decreased
 NLRP3 inflammasome: high response
G ⇒ A missense probably damaging 1.000
68 UTSW Tlr4 0.000 4 66827584-66930284 bp (+) 66833880 Autosomal Semidominant (3;15) 0.945 2019-09-04
Katherine Timer
 FACS B220 MFI - decreased
 NLRP3 inflammasome: low response
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
T ⇒ A splice site 14 bp probably null
69 UTSW Nlrp3 0.072 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
70 UTSW
has video
Rorb 0.000 19 18930605-19111196 bp (-) 18955053 Autosomal Recessive (2;8) 0.385 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight (DSS Male) - increased
 limbs/digits/tail phenotype
 nervous system
A ⇒ G missense probably damaging 1.000
71 UTSW
has video
Scn8a 0.762 15 100869858-101045938 bp (+) 101035646 Unknown (1;0)
Autosomal Recessive (1;5)
0.272 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 growth/size
A ⇒ G missense probably damaging 1.000
72 UTSW Adgrf5 0.000 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 0.046 2019-09-04
Diantha La Vine
 30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
73 UTSW 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
74 UTSW Sell 0.000 1 164061982-164084181 bp (+) 164066201 Autosomal Dominant (1;4)
Autosomal Recessive (6;41)
0.958 2019-09-04
Peter Jurek
 FACS central memory CD4 T cells in CD4 T cells - decreased
 FACS central memory CD8 T cells in CD8 T cells - decreased
 FACS effector memory CD8 T cells in CD8 T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A splice site 9 bp probably null
75 UTSW
has video
Slc26a4 0.000 12 31519827-31559969 bp (-) 31525568 Autosomal Recessive (2;9) 0.703 2019-09-04
Emre Turer
 behavior/neurological
 DSS: sensitive day 10
 hearing/vestibular/ear
A ⇒ T nonsense probably null
76 UTSW
has photo
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
77 UTSW Sppl2a 0.106 2 126890391-126933235 bp (-) 126923594 Autosomal Recessive (3;13) 0.696 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
78 UTSW Nr3c2 1.000 8 76899442-77245012 bp (+) 76908668 Autosomal Recessive (1;5) 0.099 2019-09-04
Bruce Beutler
 Body Weight - decreased
 growth/size
A ⇒ G splice site probably null
79 UTSW
has video
Dst 0.257 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
Autosomal Recessive (5;19)
0.382 2019-09-04
Anne Murray
 behavior/neurological
 Body Weight - decreased
 DSS: sensitive day 7
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
 TLR signaling defect: hypersensitivity to CpG + IFNg
T ⇒ C critical splice donor site 2 bp probably null
80 UTSW Nlrp3 0.072 11 59541568-59566956 bp (+) 59549531 Autosomal Dominant (1;9)
Autosomal Semidominant (1;6)
0.871 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ G missense probably benign 0.190
81 UTSW
has photo
Tyr 0.233 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
82 UTSW
has photohas video
Grm1 0.197 10 10686059-11082356 bp (-) 10741508 Autosomal Recessive (1;2) failed initial filter 2019-09-04
Diantha La Vine
 behavior/neurological
 growth/size
 life span-post-weaning/aging
 skeleton phenotype
G ⇒ T nonsense probably null
83 UTSW
has photo
Adamts20 0.133 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
84 UTSW
has photo
Lyst 0.286 13 13590397-13778803 bp (+) 13647083 Autosomal Recessive (1;1) failed initial filter 2019-09-04
Diantha La Vine
 pigmentation
 skin/coat/nails
T ⇒ A nonsense probably null
85 UTSW Entpd5 0.000 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (10;46)
Autosomal Semidominant (2;9)
0.917 2019-09-04
External Program
 125-03 Response - increased
 Body Weight - decreased
 Body Weight (DSS) - decreased
 Body Weight (DSS, z-score) - decreased
 Body Weight (Female) - decreased
 Body Weight (Z-score) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B1 cells - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 growth/size
 TLR signaling defect: hypersensitivity to PAM3CSK4
G ⇒ A nonsense probably null
86 UTSW
has video
Syt2 0.091 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
87 UTSW Ciita 0.105 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
Autosomal Semidominant (1;4)
0.929 2019-09-04
Anne Murray
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
 post-MCMV FACS CD4:CD8 - decreased
 post-MCMV FACS CD8+ T cells in CD3+ T cells - increased
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
88 UTSW Lyn 0.000 4 3678115-3813122 bp (+) 3789908 Autosomal Dominant (7;36)
Autosomal Recessive (4;18), Autosomal Semidominant (14;82)
0.952 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 B220 MFI - decreased
 FACS CD4+ T cells - increased
 FACS CD8+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 FACS neutrophils - decreased
 FACS T cells - increased
 MCMV susceptibility
 Nlrc4 inflammasome: low response
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS B220 MFI - 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
 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 nonsense probably null
89 UTSW
has video
Myo6 0.000 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) 0.131 2019-09-04
Anne Murray
 behavior/neurological
 dsDNA induced type I IFN production - increased
 hearing/vestibular/ear
 impaired response to dsDNA- type I IFN production by macrophages
G ⇒ A critical splice donor site 1 bp probably null
90 UTSW Rorc 0.808 3 94372794-94398276 bp (+) 94397302 Autosomal Dominant (1;4)
Autosomal Recessive (1;8)
0.819 2019-09-04
Diantha La Vine
 IgE response to a Cysteine Protease (Papain) - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
T ⇒ A nonsense probably null
91 UTSW Socs2 0.177 10 95385362-95417180 bp (-) 95413081 Autosomal Recessive (3;15) 0.399 2019-09-04
Bruce Beutler
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (Male) - increased
 growth/size
C ⇒ A nonsense probably null
92 UTSW Prkcb 0.000 7 122288751-122634402 bp (+) 122582449 Autosomal Recessive (1;5)
Autosomal Semidominant (5;37)
0.934 2019-09-04
Diantha La Vine
 FACS B1 cells - decreased
 FACS B1a cells in B1 cells - decreased
 FACS IgM MFI - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
T ⇒ A missense probably damaging 1.000
93 UTSW Alms1 0.000 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
Autosomal Semidominant (1;4)
0.966 2019-09-04
External Program
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 Body Weight (Z-score) - increased
 growth/size
C ⇒ T nonsense probably null
94 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101745645 Autosomal Recessive (10;147) 0.957 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
95 UTSW Tub 0.000 7 108950338-109034460 bp (+) 109020954 Autosomal Recessive (5;27) 0.445 2019-09-04
Bruce Beutler
 adipose tissue
 Body Weight - increased
 Body Weight (DSS) - increased
 Body Weight (DSS, z-score) - increased
 Body Weight (Z-score) - increased
 growth/size
C ⇒ T nonsense probably null
96 UTSW Nfkb2 0.597 19 46304737-46312090 bp (+) 46311626 Unknown (1;0)
Autosomal Recessive (1;4)
0.079 2019-09-04
Diantha La Vine
 FACS B1a cells - increased
A ⇒ T missense possibly damaging 0.956
97 UTSW Mapk3 0.000 7 126759601-126765819 bp (+) 126763512 Autosomal Recessive (2;10) 0.633 2019-09-04
Peter Jurek
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
A ⇒ T nonsense probably null
98 UTSW Nlrp3 0.072 11 59541568-59566956 bp (+) 59548476 Autosomal Semidominant (2;11) 0.915 2019-09-04
Diantha La Vine
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
T ⇒ A missense probably damaging 0.991
99 UTSW 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
100 UTSW Tnfsf13b 0.084 8 10006467-10039072 bp (+) 10031534 Autosomal Recessive (1;1)
Autosomal Semidominant (1;5)
0.919 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
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