Phenotypic Mutations

852 mutations affecting 363 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 100 of 854] per page Full List
 



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Verification Probability

Phenotypic Category

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1 UTSW Asf1b 0.000 contraire 8 83955507-83970197 bp (+) 83955911 Autosomal Recessive (3;14) 0.593 2022-04-23
Diantha La Vine
FACS CD44+ CD8 MFI - increased
FACS effector memory CD8 T cells in CD8 T cells - increased
OVA-specific IgE - increased
total IgE level - increased
T ⇒ C missense probably damaging 0.999
2 UTSW Ltbr 0.161 Armitage 6 125306571-125313885 bp (-) 125312794 Autosomal Recessive (1;5)
Autosomal Semidominant (1;2)
0.800 2022-04-15
External Program
T-independent B cell response defect- decreased TNP-specific IgM to TNP-Ficoll immunization
G ⇒ A missense probably damaging 0.973
3 UTSW Prkdc 0.949 Screamer10 16 15637866-15842235 bp (+) 15768025 Unknown no linkage result 2022-04-15
External Program
A ⇒ T missense probably damaging 0.981
4 UTSW Mbtps1 1.000 woodrat 8 119508156-119558735 bp (-) 119529030 Unknown (1;0) no linkage results 2022-04-12
External Program
Body Weight - decreased
Body Weight (Z-score) - decreased
DSS: sensitive day 7
embryogenesis
homeostasis/metabolism
immune system
lethality-embryonic/perinatal
pigmentation
reproductive system
skin/coat/nails
T ⇒ C missense probably damaging 1.000
5 UTSW Gk5 0.000 toku 9 96119362-96184608 bp (+) 96140629 Unknown (1;0)
Autosomal Recessive (2;5)
0.523 2022-04-12
External Program
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 central memory CD8 T cells in CD8 T cells - increased
skin/coat/nails
GCC ⇒ GC frame shift probably null
6 UTSW Kbtbd2 0.000 teeny 6 56777524-56797813 bp (-) 56780389 Unknown (1;0)
Autosomal Recessive (7;54), Autosomal Semidominant (1;7)
0.978 2022-04-12
External Program
30 min GTT hyperglycemic
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
FACS CD44+ CD8 T cells - increased
growth/size
liver/biliary system
G ⇒ A nonsense probably null
7 UTSW Dck 0.000 rosa 5 88764996-88783281 bp (+) 88772723 Autosomal Recessive (19;119) 0.978 2022-04-12
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
8 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
9 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
10 UTSW Pi4ka 1.000 Pia 16 17280351-17406314 bp (-) 17281044 Autosomal Recessive (3;18)
Autosomal Semidominant (3;12)
0.381 2022-04-12
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
11 UTSW Smcr8 0.000 patriot 11 60777524-60788287 bp (+) 60778032 Autosomal Recessive (6;34)
Autosomal Semidominant (1;6)
0.931 2022-04-12
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
total IgE level - increased
T ⇒ C missense probably damaging 1.000
12 UTSW Lrba 0.000 oscar 3 86224680-86782692 bp (+) 86350304 Autosomal Recessive (2;15) 0.904 2022-04-12
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
13 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
14 UTSW Ikzf1 0.000 Herrscher 11 11685003-11772926 bp (+) 11768961 Autosomal Dominant (20;149) 0.977 2022-04-12
External Program
Body Weight (BP, z-score, male) - decreased
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
15 UTSW Nedd9 0.000 hebei 13 41309581-41487362 bp (-) 41338979 Autosomal Recessive (5;29) 0.680 2022-04-12
External Program
FACS B1a cells in B1 cells - decreased
MCMV susceptibility
post-MCMV FACS B1a cells in B1 cells - decreased
post-MCMV FACS B1b cells in B1 cells - increased
A ⇒ T nonsense probably null
16 UTSW Wdr41 0.000 gogi 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
Autosomal Semidominant (3;16)
0.965 2022-04-12
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
17 UTSW Entpd5 0.000 eatsy 12 84373857-84409029 bp (-) 84382295 Autosomal Recessive (11;50)
Autosomal Semidominant (2;9)
0.962 2022-04-12
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
Body Weight (Z-score, female) - 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
18 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
19 UTSW Slc9a8 0.000 costello 2 167421712-167477000 bp (+) 167451296 Autosomal Recessive (1;5) 0.421 2022-04-12
External Program
DSS: sensitive day 7
T ⇒ A missense probably damaging 1.000
20 UTSW Gys2 0.242 candy_corn 6 142422613-142473109 bp (-) 142456333 Autosomal Recessive (2;13) 0.046 2022-04-12
External Program
30 min GTT hyperoglycemic (female)
T ⇒ C missense probably benign 0.001
21 UTSW Arnt2 1.000 Arnold2 7 84246278-84410176 bp (-) 84347530 Autosomal Dominant (3;4)
Autosomal Semidominant (4;22)
0.977 2022-04-12
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - 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
22 UTSW Alms1 0.000 ares 6 85587531-85702753 bp (+) 85621275 Autosomal Recessive (2;10)
Autosomal Semidominant (2;8)
0.973 2022-04-12
External Program
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
growth/size
C ⇒ T nonsense probably null
23 UTSW Cd36 0.096 almond_joy 5 17781690-17888801 bp (-) 17813088 Autosomal Recessive (1;5) no linkage result 2022-04-12
External Program
T ⇒ A missense probably damaging 1.000
24 UTSW Lrp5 0.919 Spicule 19 3584828-3686564 bp (-) 3612197 Autosomal Dominant (1;4) no linkage result 2022-04-02
Stephen Lyon
C ⇒ A critical splice donor site 1 bp probably null
25 UTSW Lrp5 0.919 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
26 UTSW Chsy1 0.000 Chrysanthemum 7 66109515-66173798 bp (+) 66110229 Autosomal Dominant (2;10)
Autosomal Recessive (1;4), Autosomal Semidominant (3;16)
0.665 2022-04-02
Stephen Lyon
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
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
FACS B1 cells - increased
T ⇒ G critical splice donor site 2 bp probably null
27 UTSW Acan 1.000 Vacuo 7 79053483-79115099 bp (+) 79088307 Autosomal Dominant (39;418) 0.827 2022-04-02
Stephen Lyon
Body Weight - decreased
Body Weight (BP, z-score, female) - decreased
Body Weight (Female) - decreased
Body Weight (Z-score) - decreased
Body Weight (Z-score, female) - decreased
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI, female) - 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
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - decreased
LPS Cachexia: Body Weight (day 0) - decreased
LPS Cachexia: Body Weight (day 0, z-score) - decreased
LPS Cachexia: Body Weight (day 1) - decreased
LPS Cachexia: Body Weight (day 14) - decreased
LPS Cachexia: Body Weight (day 2) - decreased
T ⇒ G critical splice donor site 2 bp probably null
28 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
29 UTSW Adgrf5 0.000 sweetie 17 43360451-43459557 bp (+) 43450983 Autosomal Recessive (1;5) 0.049 2021-12-13
Diantha La Vine
30 min GTT hyperglycemic
A ⇒ T missense probably damaging 0.957
30 UTSW Apbb2 0.000 Dionysis 5 66298703-66618784 bp (-) 66452250 Autosomal Recessive (1;4)
Autosomal Semidominant (2;8)
0.559 2021-11-30
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
post-MCMV FACS effector memory CD8 T cells in CD8 T cells - increased
A ⇒ T missense probably damaging 0.986
31 UTSW Apbb2 0.000 bund 5 66298703-66618784 bp (-) 66400255 Autosomal Recessive (1;3) failed initial filter 2021-11-30
Diantha La Vine
30 min GTT hyperglycemic
30 min GTT hyperglycemic (male)
T ⇒ A missense probably damaging 0.996
32 UTSW Ap3d1 0.939 christian 10 80706956-80742264 bp (-) 80730042 Autosomal Semidominant (1;0) failed initial filter 2021-11-22
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T missense probably damaging 1.000
33 UTSW Ap3b1 0.328 bullet_gray 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) no linkage results 2021-11-22
Diantha La Vine
immune system
MCMV susceptibility
pigmentation
skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
34 UTSW Ap3b1 0.328 bella 13 94358960-94566317 bp (+) 94528257 Autosomal Recessive (1;4) 0.520 2021-11-22
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense unknown
35 UTSW Ank1 0.651 Hema6 8 22974844-23150497 bp (+) 23097638 Unknown no linkage results 2021-11-17
Diantha La Vine
anemia
T ⇒ C intron probably benign
36 UTSW Alx4 0.569 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
37 UTSW Alms1 0.000 portly 6 85587531-85702753 bp (+) 85619712 Autosomal Recessive (5;24) 0.967 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (BP, z-score, female) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
T ⇒ C missense probably benign 0.004
38 UTSW Alms1 0.000 gut_check 6 85587531-85702753 bp (+) 85620369 Autosomal Recessive (4;17) failed initial filter 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
A ⇒ T nonsense probably null
39 UTSW Alms1 0.000 fatty 6 85587531-85702753 bp (+) 85627934 Autosomal Dominant (1;1)
Autosomal Recessive (19;153), Autosomal Semidominant (1;1)
0.978 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
growth/size
NK cell response - decreased
NK killing - decreased
C ⇒ T nonsense probably null
40 UTSW Alms1 0.000 earthquake 6 85587531-85702753 bp (+) 85628735 Autosomal Recessive (42;272) 0.977 2021-11-17
Diantha La Vine
Body Weight - increased
Body Weight (BP, z-score, female) - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
Bone: Pelvis Length (AI, residual) - decreased
Bone: Pelvis Length (AI, residual, male) - decreased
Bone: Tibia Length (AI, residual) - decreased
A ⇒ T nonsense probably null
41 UTSW Alms1 0.000 ares2 6 85587531-85702753 bp (+) 85677990 Autosomal Recessive (7;58)
Autosomal Semidominant (2;9)
0.431 2021-11-16
Diantha La Vine
Body Weight - increased
Body Weight (Female) - increased
Body Weight (Male) - increased
Body Weight (Z-score) - increased
Body Weight (Z-score, female) - increased
Body Weight (Z-score, male) - increased
resistance to B10-F16 melanoma - decreased
C ⇒ T nonsense probably null
42 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
43 UTSW Adra2a 0.000 splenda2 19 54045182-54048982 bp (+) 54046639 Autosomal Recessive (4;19)
Autosomal Semidominant (1;4)
0.867 2021-11-10
Diantha La Vine
30 min GTT hypoglycemic
30 min GTT hypoglycemic (female)
30 min GTT hypoglycemic (male)
T ⇒ C missense probably damaging 1.000
44 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
45 UTSW Adgre1 0.277 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
46 UTSW Adgre1 0.277 Onion 17 57358686-57483529 bp (+) 57402841 Unknown no linkage results 2021-11-01
Diantha La Vine
FACS macrophages - decreased
T ⇒ A nonsense probably null
47 UTSW Adgre1 0.277 lomax 17 57358686-57483529 bp (+) 57402811 Autosomal Recessive (1;7) 0.421 2021-11-01
Diantha La Vine
FACS macrophages - decreased
A ⇒ G missense unknown
48 UTSW Adgre1 0.277 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
49 UTSW Tlr9 0.083 Cpg1 9 106222598-106226883 bp (+) 106225007 Unknown (3;0) no linkage results 2021-10-28
Stephen Lyon
immune system
MCMV susceptibility
response to injected CpG DNA - decreased
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 1.000
50 UTSW Tlr9 0.083 Cpg11 9 106222598-106226883 bp (+) 106224586 Unknown (1;0) no linkage results 2021-10-28
Stephen Lyon
TLR signaling defect: TNF production by macrophages
T ⇒ C missense probably damaging 0.999
51 UTSW Adamts20 0.139 whopper 15 94270163-94465418 bp (-) 94347810 Autosomal Recessive (1;6) 0.512 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A missense probably damaging 1.000
52 UTSW Adamts20 0.139 wash 15 94270163-94465418 bp (-) 94347670 Autosomal Recessive (1;7) 0.629 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ A nonsense probably null
53 UTSW Adamts20 0.139 splotch2 15 94270163-94465418 bp (-) 94335561 Unknown no linkage results 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T intron 8 bp probably benign
54 UTSW Adamts20 0.139 poliwag 15 94270163-94465418 bp (-) 94394622 Autosomal Recessive (1;4) 0.565 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T nonsense probably null
55 UTSW Adamts20 0.139 pikachu 15 94270163-94465418 bp (-) 94345990 Autosomal Recessive (1;1) failed initial filter 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ T missense probably damaging 1.000
56 UTSW Adamts20 0.139 panda 15 94270163-94465418 bp (-) 94326699 Unknown no linkage results 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
G ⇒ T intron probably benign
57 UTSW Adamts20 0.139 meowth 15 94270163-94465418 bp (-) 94331458 Autosomal Recessive (1;1) failed initial filter 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
A ⇒ C missense probably damaging 1.000
58 UTSW Adamts20 0.139 nidoking 15 94270163-94465418 bp (-) 94403445 Autosomal Recessive (1;12) 0.580 2021-10-21
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
59 UTSW Adamts20 0.139 jack_white 15 94270163-94465418 bp (-) Unknown no linkage results 2021-10-19
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
60 UTSW Adamts20 0.139 buckeye 15 94270163-94465418 bp (-) 94341087 Unknown (1;0) failed initial filter 2021-10-19
Diantha La Vine
pigmentation
skin/coat/nails
C ⇒ T missense probably damaging 0.999
61 UTSW Adam17 0.929 wavedx 12 21323509-21373632 bp (-) 21340750 Unknown no linkage results 2021-10-19
Diantha La Vine
skin/coat/nails
vision/eye
A ⇒ T missense probably damaging 1.000
62 UTSW a 0.180 killer_whale 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
63 UTSW a 0.180 garfield 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
64 UTSW a 0.180 yellowbelly 2 154791402-155051012 bp (+) Unknown no linkage results 2021-10-06
Diantha La Vine
pigmentation
skin/coat/nails
unclassified
65 UTSW Ctsl 1.000 patch 13 64359337-64370890 bp (-) 64366623 Autosomal Recessive (14;269)
Autosomal Semidominant (5;26)
0.976 2021-09-24
External Program
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 ⇒ A nonsense probably null
66 UTSW Irf1 0.000 Endeka2 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (5;56)
Autosomal Semidominant (11;53)
0.802 2021-02-25
External Program
FACS B1 cells - increased
FACS CD4:CD8 - increased
FACS CD4+ T cells - increased
FACS CD4+ T cells in CD3+ T cells - increased
FACS CD8+ T cells - decreased
FACS CD8+ T cells in CD3+ T cells - decreased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS NK cells - decreased
C ⇒ G missense probably damaging 1.000
67 UTSW Atm 0.913 Tropo 9 53439149-53536740 bp (-) 53531648 Unknown (2;0) no linkage result 2020-12-09
External Program
A ⇒ G missense probably damaging 1.000
68 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
69 UTSW Rac2 0.000 Potter 15 78559167-78572783 bp (-) 78570743 Autosomal Recessive (5;26)
Autosomal Semidominant (2;11)
0.867 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
70 UTSW Tap2 0.156 Palm 17 34203527-34216321 bp (+) 34215940 Autosomal Recessive (1;7)
Autosomal Semidominant (1;5)
0.400 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
71 UTSW Ebf1 0.904 Oregano 11 44617317-45008091 bp (+) 44869169 Autosomal Recessive (14;96)
Autosomal Semidominant (4;22)
0.955 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
72 UTSW Mbtps1 1.000 Muskrat 8 119508156-119558735 bp (-) 119538137 Autosomal Dominant (2;2)
Autosomal Recessive (2;9)
failed initial filter 2020-07-29
External Program
pigmentation
skin/coat/nails
G ⇒ A missense probably damaging 1.000
73 UTSW Bcl3 0.000 Memorial 7 19808462-19822770 bp (-) 19812484 Autosomal Recessive (1;5)
Autosomal Semidominant (1;4)
0.317 2020-07-29
External Program
FACS central memory CD8 T cells in CD8 T cells - increased
T ⇒ A missense probably damaging 1.000
74 UTSW Ifngr1 0.000 Marigold 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
Autosomal Dominant (3;12), Autosomal Recessive (2;14)
0.387 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
75 UTSW Pax5 1.000 Glacier 4 44524757-44710487 bp (-) 44679494 Autosomal Recessive (2;21)
Autosomal Semidominant (1;7)
0.875 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
76 UTSW Tmprss6 0.076 Ekans 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
Autosomal Semidominant (1;4)
0.436 2020-07-29
External Program
FACS T cells - decreased
skin/coat/nails
T ⇒ A splice site probably null
77 UTSW Prkdc 0.949 Daffy 16 15637866-15842235 bp (+) 15829697 Autosomal Semidominant (1;4) 0.554 2020-07-29
External Program
FACS CD44+ CD4 MFI - increased
A ⇒ T missense possibly damaging 0.861
78 UTSW Tlr4 0.000 Cruyff 4 66827584-66930284 bp (+) 66840326 Autosomal Recessive (3;31)
Autosomal Semidominant (3;16)
0.941 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
79 UTSW Pik3r1 0.000 Astro_boy 13 101680563-101768217 bp (-) 101701732 Autosomal Recessive (2;12)
Autosomal Semidominant (1;4)
0.123 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
80 UTSW Inpp5d 0.901 styx 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
81 UTSW Inpp5d 0.901 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
82 UTSW Inpp5d 0.901 Orange 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
Autosomal Semidominant (4;19)
0.885 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
FACS IgD+ B cell percentage - decreased
FACS IgM+ B cells - decreased
G ⇒ A critical splice donor site 1 bp probably null
83 UTSW Inpp5d 0.901 pantone 1 87620312-87720507 bp (+) 87699675 Autosomal Recessive (106;872)
Autosomal Semidominant (4;27)
0.978 2020-05-29
Thomas Gallagher
Body Weight - decreased
Body Weight (BP, z-score, female) - decreased
Body Weight (BP, 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
Bone: Femur Length (AI, residual) - decreased
Bone: Femur Length (AI, residual, female) - decreased
Bone: Femur Length (AI, residual, male) - decreased
Bone: Fore Hip Distance (AI) - decreased
Bone: Fore Hip Distance (AI, female) - decreased
Bone: Fore Hip Distance (AI, male) - decreased
Bone: Hind Hip Distance (AI) - decreased
Bone: Hind Hip Distance (AI, female) - decreased
Bone: Hind Hip Distance (AI, 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
Bone: Tibia Length (AI, residual, female) - decreased
Bone: Tibia Length (AI, residual, male) - 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
84 UTSW Inpp5d 0.901 americas 1 87620312-87720507 bp (+) 87715142 Autosomal Recessive (4;49) 0.541 2020-05-29
Thomas Gallagher
dsDNA induced type I IFN production - increased
impaired response to dsDNA- type I IFN production by macrophages
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
85 UTSW Pik3r1 0.000 anubis 13 101680563-101768217 bp (-) 101702776 Unknown (3;0)
Autosomal Recessive (9;54), Autosomal Semidominant (1;4)
0.977 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
86 UTSW Jak3 0.698 thistle 8 71676296-71690575 bp (+) 71685383 Unknown (2;0)
Autosomal Recessive (32;317), Autosomal Semidominant (1;4)
0.975 2020-01-15
Eva Marie Y. Moresco
Body Weight (DSS Female) - decreased
Body Weight (DSS, z-score, 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
87 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
88 UTSW Lig4 1.000 posey 8 9969049-9977686 bp (-) 9972955 Autosomal Recessive (16;134)
Autosomal Semidominant (2;8)
0.977 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
89 UTSW Cd4 0.000 craw 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
90 UTSW Pparg 1.000 Energy 6 115360951-115490399 bp (+) 115451044 Unknown (4;0)
Autosomal Dominant (4;15)
0.347 2019-11-06
Bruce Beutler
Body Weight - decreased
Body Weight (DSS) - decreased
Body Weight (DSS, z-score) - decreased
growth/size
G ⇒ T missense probably damaging 1.000
91 UTSW Elmo1 0.000 Debil 13 20090596-20608353 bp (+) 20373161 Autosomal Dominant (2;10)
Autosomal Recessive (2;11), Autosomal Semidominant (3;11)
0.805 2019-10-29
Diantha La Vine
FACS B220 MFI - decreased
FACS CD4:CD8 - decreased
FACS CD8+ T cells in CD3+ T cells - increased
FACS central memory CD8 T cells in CD8 T cells - decreased
FACS effector memory CD4 T cells in CD4 T cells - increased
FACS NK cells - decreased
T ⇒ C missense probably damaging 1.000
92 UTSW Ryr2 1.000 Arruda2 13 11553102-12106945 bp (-) 11879496 Autosomal Recessive (4;16)
Autosomal Semidominant (3;23)
no linkage result 2019-10-29
Anne Murray
G ⇒ T missense probably damaging 0.998
93 UTSW Klhl6 0.075 cerulean 16 19946496-19983037 bp (-) 19957218 Autosomal Recessive (8;130)
Autosomal Semidominant (6;41)
0.935 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
94 UTSW Il2rb 0.113 Whistles 15 78479256-78495271 bp (-) 78481936 Autosomal Dominant (1;3)
Autosomal Recessive (2;8), Autosomal Semidominant (5;21)
0.667 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
95 UTSW Myo15 0.000 Typhoon 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
Autosomal Recessive (1;5)
0.143 2019-10-23
Anne Murray
behavior/neurological
NALP3 inflammasome signaling defect
NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
96 UTSW Pcdh15 0.000 Tortilla 10 73099342-74649737 bp (+) 74379417 Autosomal Recessive (2;10)
Autosomal Semidominant (2;9)
0.528 2019-10-23
Diantha La Vine
behavior/neurological
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
97 UTSW Prkcd 0.362 Rigged 14 30595354-30626210 bp (-) 30610301 Autosomal Recessive (1;5)
Autosomal Semidominant (2;9)
0.885 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
98 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
99 UTSW Prkce 0.000 Pinnacles 17 86167785-86657919 bp (+) 86476851 Autosomal Semidominant (1;5) 0.033 2019-10-23
Anne Murray
FACS NK cells - decreased
C ⇒ T missense probably damaging 0.997
100 UTSW Dst 0.282 Phelps 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
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