Phenotypic Mutations

86 mutations affecting 67 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 86 of 86] per page Full List
 
question?
question?
question?
question?
~
question?
question?
question?
 

question?
question?
question?
Phenotypic Category question?

any of and
and none of and
and

question?
question?
 
question?
question?
 
1 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15652552 Autosomal Recessive (5;51)
 Autosomal Semidominant (1;4)
excellent candidate 2019-07-17
Diantha La Vine
 Body Weight - decreased
 Body Weight (DSS) - decreased
 FACS IgD MFI - 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 critical splice donor site probably null
2 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15702157 Unknown no linkage results 2019-07-17
Diantha La Vine
 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 ⇒ C splice site 2 bp probably benign
3 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15725461 Autosomal Recessive (21;186) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 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 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
G ⇒ T critical splice donor site 1 bp probably null
4 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15740332 Autosomal Recessive (4;19) failed initial filter 2019-07-17
Diantha La Vine
 FACS B cells - decreased
 FACS B1b cells - increased
 FACS neutrophils - increased
 TLR signaling defect: hypersensitivity to R848
 TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site 2 bp probably null
5 UTSW Prkdc 0.963 16 15637866-15842235 bp (+) 15786050 Autosomal Recessive (20;325) excellent candidate (Recruited) 2019-07-17
Diantha La Vine
 Blood Pressure: HR Day 3 - decreased
 Blood Pressure: MBP Average - decreased
 FACS B cells - decreased
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - increased
 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 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 NK cells - increased
 FACS T cells - decreased
T ⇒ C critical splice donor site 2 bp probably null
6 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46783469 Autosomal Dominant (2;19)
 Autosomal Recessive (2;6)
not good candidate 2019-06-25
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
7 UTSW
has photo
Hps5 0.227 7 46760466-46796064 bp (-) 46777075 Unknown (1;0) no linkage results 2019-06-25
Diantha La Vine
 DSS: sensitive day 7
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
 vision/eye
A ⇒ G intron 2 bp probably benign
8 UTSW Wdr41 0.000 13 94976344-95023314 bp (+) 95015217 Autosomal Recessive (13;82)
 Autosomal Semidominant (3;16)
excellent candidate 2019-06-15
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 NK 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
9 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138067885 Autosomal Dominant (4;31)
 Autosomal Semidominant (2;8)
excellent candidate (Recruited) 2019-06-06
Diantha La Vine
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD44+ CD8 MFI - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
C ⇒ T critical splice donor site 1 bp probably null
10 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138101041 Autosomal Recessive (17;235)
 Autosomal Semidominant (1;17)
excellent candidate 2019-06-06
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 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 naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS T cells - decreased
C ⇒ T critical splice donor site probably null
11 UTSW Ptprc 0.265 1 138062861-138175708 bp (-) 138113562 Autosomal Recessive (5;82)
 Autosomal Semidominant (9;66)
excellent candidate 2019-06-06
Diantha La Vine
 Blood Pressure: SBP Day 1 - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD44+ CD4 MFI - 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 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 NK cells - decreased
A ⇒ T critical splice donor site 2 bp probably null
12 APN Dock8 0.162 19 24999529-25202432 bp (+) 25127711 Unknown no linkage results 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 FACS CD4+ T cells - decreased
 FACS CD8+ T cells - decreased
 immune system
T ⇒ C critical splice donor site 2 bp probably benign
13 UTSW Dock8 0.162 19 24999529-25202432 bp (+) 25169501 Autosomal Recessive (15;109)
 Autosomal Semidominant (1;4)
excellent candidate 2019-05-26
Diantha La Vine
 FACS B:T cells - increased
 FACS B1 cells - decreased
 FACS B220 MFI - decreased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD4 MFI - increased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 MFI - 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
T ⇒ C critical splice donor site 2 bp probably null
14 UTSW Nfkb2 0.437 19 46304737-46312090 bp (+) 46307720 Autosomal Recessive (15;213)
 Autosomal Semidominant (1;14)
excellent candidate 2019-05-26
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1 cells - increased
 FACS B220 MFI - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - increased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD4 MFI - decreased
 FACS CD44+ CD8 MFI - decreased
 FACS CD44+ T MFI - decreased
 FACS CD8+ T cells - increased
 FACS CD8+ T cells in CD3+ 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 NK cells - decreased
 FACS T cells - increased
T ⇒ C critical splice donor site 2 bp probably null
15 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34229472 Autosomal Recessive (2;25)
 Autosomal Semidominant (5;25)
excellent candidate 2019-05-21
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
16 UTSW Dock2 0.000 11 34226815-34783892 bp (-) 34248572 Unknown (2;0) no linkage results 2019-05-21
Diantha La Vine
 FACS B cells - decreased
 immune system
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T critical splice donor site 2 bp probably benign
17 UTSW Hcn2 0.000 10 79716634-79736108 bp (+) 79729113 Autosomal Recessive (5;22) excellent candidate (Recruited) 2019-05-16
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 FACS B cells - decreased
 LPS Cachexia: Body Weight (day 1) - decreased
 Motor: Rotarod Weight - decreased
T ⇒ A critical splice donor site 2 bp probably null
18 UTSW
has video
Atcay 0.251 10 81204508-81230833 bp (-) 81220573 Unknown no linkage results 2019-04-18
Anne Murray
 behavior/neurological
A ⇒ T intron 2 bp probably benign
19 UTSW Lepr 0.000 4 101717404-101815352 bp (+) 101765152 Autosomal Recessive (12;82)
 Autosomal Semidominant (1;3)
excellent candidate 2019-03-30
Diantha La Vine
 30 min GTT hyperglycemic
 Body Weight - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS macrophages - increased
 growth/size
 NK cell response - decreased
 NK killing - decreased
 OVA-specific IgE - increased
 TLR signaling defect: hyposensitivity to CpG + IFNg
 total IgE level - increased
G ⇒ A critical splice donor site probably null
20 UTSW Ltbr 0.131 6 125306571-125313885 bp (-) 125313388 Autosomal Dominant (1;4)
 Autosomal Recessive (5;28)
excellent candidate 2019-03-18
Anne Murray
 FACS B:T cells - increased
 FACS IgD MFI - decreased
 FACS T cells - decreased
 ratio of OVA-specific IgE over the total IgE - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
A ⇒ C critical splice donor site 2 bp probably null
21 UTSW
has photo
Eml1 0.277 12 108370957-108539617 bp (+) 108513071 Autosomal Recessive (1;8) failed initial filter 2019-03-13
Anne Murray
 craniofacial
 nervous system
G ⇒ A critical splice donor site probably null
22 UTSW Il4ra 0.070 7 125552120-125579474 bp (+) 125574717 Autosomal Dominant (1;4) not good candidate (Recruited) 2019-02-26
Anne Murray
 total IgE level - decreased
G ⇒ A critical splice donor site 1 bp probably null
23 UTSW Tg 0.161 15 66670753-66850721 bp (+) 66758006 Autosomal Recessive (14;63) excellent candidate (Recruited) 2019-02-26
Anne Murray
 Body Weight - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD44+ CD4 T cells - increased
 FACS CD44+ CD8 T cells - increased
 FACS CD44+ T cells - increased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 fasting hyperglycemia
 fasting hyperglycemia (male)
 total IgE level - increased
G ⇒ A critical splice donor site 1 bp probably null
24 UTSW Rel 0.000 11 23736847-23770970 bp (-) 23753215 Autosomal Recessive (5;23)
 Autosomal Semidominant (6;29)
excellent candidate 2019-02-14
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 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
25 UTSW Inpp5d 0.896 1 87620312-87720507 bp (+) 87669784 Unknown (1;0) no linkage results 2019-02-14
Diantha La Vine
 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
26 UTSW Inpp5d 0.896 1 87620312-87720507 bp (+) 87697546 Autosomal Dominant (3;10)
 Autosomal Semidominant (5;25)
excellent candidate 2019-02-14
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD4 T cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
G ⇒ A critical splice donor site 1 bp probably null
27 UTSW Trpc1 0.178 9 95705082-95750375 bp (-) 95721132 Autosomal Recessive (5;18) potential candidate 2019-02-13
Diantha La Vine
 Body Weight - increased
 Body Weight (DSS Male) - increased
 Body Weight (Male) - increased
 FACS B cells - decreased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
C ⇒ T critical splice donor site probably null
28 UTSW Tcf12 1.000 9 71842688-72111871 bp (-) 72015636 Autosomal Semidominant (12;67) excellent candidate 2019-02-12
Diantha La Vine
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 T cells - 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 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
29 UTSW Fnip1 0.676 11 54438199-54518235 bp (+) 54480685 Unknown no linkage results 2019-02-07
Diantha La Vine
 hematopoietic competition - disadvantage
 hematopoietic system
 homeostasis/metabolism
 muscle
G ⇒ A critical splice donor site 1 bp probably benign
30 UTSW Mlkl 0.080 8 111311797-111338177 bp (-) 111319716 Autosomal Recessive (2;18) excellent candidate 2019-02-05
Diantha La Vine
 LPS-induced Necroptosis - decreased
 Macrophage necroptosis: low
C ⇒ G critical splice donor site probably null
31 UTSW Ppp3cb 0.000 14 20499364-20546573 bp (-) 20530942 Autosomal Dominant (1;4)
 Autosomal Recessive (4;21)

 Autosomal Semidominant (8;48)
excellent candidate 2019-02-04
Diantha La Vine
 FACS B:T cells - increased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ 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 - 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 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
32 UTSW Itgb2 0.428 10 77530252-77565708 bp (+) 77561216 Autosomal Recessive (24;175) excellent candidate 2019-02-01
Diantha La Vine
 CD8 response - decreased
 CTL killing - decreased
 CTL killing dominant epitope - decreased
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS CD11b+ DCs (gated in CD11c+ cells) - decreased
 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+ 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 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 - decreased
 FACS naive CD4 T cells in CD4 T cells - decreased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - decreased
 FACS NK T cells - increased
 NK cell response - decreased
 NK killing - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
 total IgE level - increased
G ⇒ A critical splice donor site probably null
33 UTSW Stk4 0.000 2 164070322-164155524 bp (+) 164099827 Autosomal Recessive (29;318) excellent candidate 2019-02-01
Diantha La Vine
 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
 Fasting Insulin (Female) - 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
 Total IgE After 2nd OVA/Alum Challenge (day 7) - increased
T ⇒ C critical splice donor site probably null
34 UTSW Nfkb1 0.575 3 135584655-135691547 bp (-) 135612412 Autosomal Recessive (1;4)
 Autosomal Semidominant (4;22)
excellent candidate 2019-01-28
Diantha La Vine
 DSS: sensitive day 10
 FACS central memory CD8 T cells in CD8 T cells - increased
 T-dependent humoral response defect- decreased antibody response to rSFV
 Total IgE After 2nd OVA/Alum Challenge (day 7) - decreased
 total IgE level - decreased
A ⇒ T critical splice donor site probably null
35 UTSW Tnip1 0.000 11 54910785-54962917 bp (-) 54939596 Autosomal Recessive (14;110)
 Autosomal Semidominant (5;21)
excellent candidate 2018-10-02
External Program
 FACS B1 cells - increased
 FACS B1a cells - increased
 FACS B1b cells - increased
 FACS B2 cells - decreased
 FACS CD11c+ DCs - increased
 FACS CD44+ CD8 MFI - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgM MFI - decreased
 FACS NK cells - decreased
 MTT Value of PECs - decreased
 OVA-specific IgE - increased
A ⇒ G critical splice donor site probably null
36 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Unknown (13;0)
 Autosomal Dominant (1;5)

 Autosomal Semidominant (8;34)
excellent candidate 2018-09-24
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
37 UTSW Diaph1 0.000 18 37843601-37935476 bp (-) 37896093 Autosomal Recessive (2;8)
 Autosomal Semidominant (1;6)
excellent candidate 2018-09-24
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
A ⇒ T critical splice donor site probably benign
38 UTSW Gk5 0.000 9 96119362-96184608 bp (+) 96129096 Autosomal Recessive (6;30)
 Autosomal Semidominant (1;4)
excellent candidate 2018-09-24
Anne Murray
 DSS: sensitive day 7
 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
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: high response
 skin/coat/nails
T ⇒ C critical splice donor site probably null
39 UTSW Gk5 0.000 9 96119362-96184608 bp (+) 96150797 Autosomal Recessive (6;25) excellent candidate 2018-09-24
Anne Murray
 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
G ⇒ A critical splice donor site 1 bp probably null
40 UTSW
has photo
Fa2h 0.267 8 111345135-111393824 bp (-) 111355398 Autosomal Recessive (1;4) excellent candidate 2018-09-19
Anne Murray
 skin/coat/nails
A ⇒ G critical splice donor site probably null
41 UTSW Tbx21 0.156 11 97098071-97115331 bp (-) 97101478 Autosomal Dominant (1;6)
 Autosomal Recessive (1;6)
excellent candidate 2018-09-13
Anne Murray
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS effector memory CD8 T cells in CD8 T cells - increased
C ⇒ T critical splice donor site probably null
42 UTSW Ern2 0.131 7 122169893-122186207 bp (-) 122171661 Autosomal Recessive (2;19) excellent candidate 2018-08-21
Anne Murray
 DSS: sensitive day 10
 DSS: sensitive day 7
A ⇒ T critical splice donor site 2 bp probably null
43 UTSW
has photo
Kitl 0.643 10 100015630-100100416 bp (+) 100076906 Unknown (2;0)
 Autosomal Dominant (3;8)
potential candidate 2018-08-06
Anne Murray
 Blood Pressure: DBP Average - increased
 Blood Pressure: MBP Average - increased
 pigmentation
 skin/coat/nails
G ⇒ A critical splice donor site probably null
44 UTSW
has photo
Kitl 0.643 10 100015630-100100416 bp (+) 100088222 Autosomal Recessive (1;4) failed initial filter 2018-08-06
Anne Murray
 pigmentation
 skin/coat/nails
T ⇒ C critical splice donor site probably null
45 UTSW Lyst 0.411 13 13590397-13778803 bp (+) 13683224 Unknown (1;0) no linkage results 2018-08-02
Diantha La Vine
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
 pigmentation
 skin/coat/nails
T ⇒ A unclassified 2 bp probably benign
46 UTSW
has photo
Lyst 0.411 13 13590397-13778803 bp (+) 13708212 Autosomal Recessive (6;68) potential candidate 2018-08-02
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
47 UTSW Mlh1 0.000 9 111228228-111271791 bp (-) 111229838 Autosomal Recessive (6;28) excellent candidate 2018-08-02
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
48 UTSW
has photo
Slc45a2 0.162 15 11000721-11029233 bp (+) 11025935 Unknown no linkage results 2018-08-01
Diantha La Vine
 pigmentation
 skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
49 UTSW Bbs9 0.597 9 22475715-22888280 bp (+) 22575196 Unknown (3;0)
 Autosomal Recessive (13;119)
excellent candidate 2018-08-01
Anne Murray
 Body Weight - increased
 Body Weight (BP Female) - increased
 Body Weight (BP Male) - increased
 Body Weight (BP) - increased
 Body Weight (Female) - increased
 Body Weight (Male) - increased
 FACS naive CD4 T cells in CD4 T cells - decreased
G ⇒ T critical splice donor site probably null
50 UTSW Trpa1 0.120 1 14872648-14918862 bp (-) 14891303 Autosomal Recessive (1;11) no Linkage result 2018-07-19
Anne Murray
A ⇒ G critical splice donor site 2 bp probably null
51 UTSW Epha4 0.803 1 77367185-77515088 bp (-) 77481076 Unknown no linkage results 2018-05-22
Anne Murray
 behavior/neurological
A ⇒ G intron 2 bp probably benign
52 UTSW Agtpbp1 0.651 13 59445742-59585227 bp (-) 59512323 Unknown no linkage results 2018-05-22
Anne Murray
 behavior/neurological
A ⇒ T critical splice donor site 2 bp probably benign
53 UTSW
has video
Myo6 0.599 9 80165031-80311729 bp (+) 80288217 Autosomal Recessive (4;15) potential candidate 2018-04-25
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
54 UTSW
has video
Pcdh15 0.347 10 73099342-74649737 bp (+) 74626844 Autosomal Recessive (1;4) good candidate 2018-04-25
Anne Murray
 behavior/neurological
 hearing/vestibular/ear
T ⇒ A critical splice donor site 2 bp probably null
55 UTSW Malt1 0.170 18 65430962-65478823 bp (+) 65475260 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;6)
excellent candidate 2018-04-18
Diantha La Vine
 post-MCMV FACS B1b cells - increased
 post-MCMV FACS CD11b+ DCs (gated in CD11c+ 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
T ⇒ A critical splice donor site 2 bp probably null
56 UTSW
has photo
Hr 0.000 14 70552212-70573548 bp (+) 70560065 Unknown no linkage results 2018-03-02
Diantha La Vine
 Body Weight (DSS Male) - decreased
 DSS: sensitive day 10
 DSS: sensitive day 7
 FACS B cells - decreased
 FACS B:T cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS B1b cells - increased
 FACS B1b cells in B1 cells - increased
 FACS B2 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD44+ CD8 T cells - decreased
 FACS CD44+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS central memory CD8 T cells in CD8 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM MFI - increased
 FACS IgM+ B cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS neutrophils - increased
 FACS T cells - decreased
 skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
57 UTSW Rims4 0.069 2 163859751-163918683 bp (-) 163864865 Autosomal Recessive (2;13) excellent candidate 2018-02-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
C ⇒ T critical splice donor site probably null
58 UTSW Ighd 0.103 12 113406604-113416324 bp (-) 113416041 Autosomal Recessive (4;18)
 Autosomal Semidominant (1;5)
good candidate 2018-02-02
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
59 UTSW Fcer2a 0.000 8 3681737-3694175 bp (-) 3688796 Autosomal Recessive (4;25) potential candidate 2018-01-28
Bruce Beutler
 FACS CD11c+ DCs - increased
A ⇒ G critical splice donor site 2 bp probably null
60 UTSW
has photo
Ap3b1 0.463 13 94358960-94566317 bp (+) 94451087 Unknown (2;0) no linkage results 2018-01-15
Diantha La Vine
 immune system
 MCMV susceptibility
 pigmentation
 skin/coat/nails
G ⇒ T critical splice donor site 1 bp probably benign
61 UTSW Cd40 0.000 2 165055627-165072948 bp (+) 165063563 Autosomal Dominant (1;4)
 Autosomal Recessive (3;35)

 Autosomal Semidominant (1;4)
excellent candidate 2017-08-30
Anne Murray
 FACS effector memory CD4 T cells in CD4 T cells - decreased
 FACS effector memory 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
 total IgE level - decreased
T ⇒ C critical splice donor site probably null
62 UTSW Cd22 0.000 7 30865402-30880342 bp (-) 30869509 Unknown (1;0)
 Autosomal Dominant (5;11)

 Autosomal Recessive (4;14)


 Autosomal Semidominant (6;17)
excellent candidate 2017-08-03
Diantha La Vine
 FACS B cells - decreased
 FACS B1a cells - increased
 FACS B1a cells in B1 cells - increased
 FACS B1b cells in B1 cells - decreased
 FACS B2 cells - decreased
 FACS CD8a+ DCs (gated in CD11c+ cells) - decreased
 FACS central memory CD4 T cells in CD4 T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
 post-MCMV FACS B cells - decreased
 post-MCMV FACS B:T cells - decreased
 post-MCMV FACS B1a cells - increased
 post-MCMV FACS B1a cells in B1 cells - decreased
 post-MCMV FACS B2 cells - decreased
 post-MCMV FACS IgD+ B cell percentage - decreased
 post-MCMV FACS IgM+ B cells - decreased
C ⇒ A critical splice donor site 1 bp probably null
63 UTSW Dock8 0.162 19 24999529-25202432 bp (+) 25184941 Autosomal Recessive (9;38)
 Autosomal Semidominant (1;4)
excellent candidate 2017-05-17
Anne Murray
 FACS B:T cells - increased
 FACS CD4+ T cells - decreased
 FACS CD44+ CD8 MFI - increased
 FACS CD8+ T cells - decreased
 FACS macrophages - increased
 FACS naive CD8 T cells in CD8 T cells - decreased
 FACS 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 critical splice donor site probably null
64 UTSW Ciita 0.204 16 10480059-10528418 bp (+) 10513288 Autosomal Recessive (9;49)
 Autosomal Semidominant (1;4)
excellent candidate 2017-05-12
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
65 UTSW Col1a1 1.000 11 94936224-94953042 bp (+) 94947184 Unknown no linkage results 2017-05-02
Katherine Timer
 behavior/neurological
 skeleton phenotype
T ⇒ A splice site 2 bp probably benign
66 UTSW Nfkbid 0.174 7 30421732-30428746 bp (+) 30425411 Unknown (2;0) no linkage results 2017-03-28
Katherine Timer
 FACS B 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
T ⇒ G critical splice donor site 2 bp probably benign
67 UTSW
has video
Myo15 0.000 11 60469339-60528369 bp (+) 60487425 Autosomal Dominant (1;7)
 Autosomal Recessive (1;5)
not good candidate 2017-03-03
Anne Murray
 behavior/neurological
 NALP3 inflammasome signaling defect
 NLRP3 inflammasome: low response
G ⇒ A critical splice donor site probably null
68 UTSW
has video
Myo15 0.000 11 60469339-60528369 bp (+) 60520914 Autosomal Recessive (1;4) good candidate 2017-03-02
Katherine Timer
 behavior/neurological
 hearing/vestibular/ear
T ⇒ C critical splice donor site 2 bp probably null
69 UTSW Col6a2 0.111 10 76595762-76623630 bp (-) 76608106 Autosomal Recessive (2;12) excellent candidate 2017-01-06
Anne Murray
 Body Weight - decreased
 Body Weight (Male) - decreased
 growth/size
C ⇒ T critical splice donor site probably null
70 UTSW
has photo
Tmprss6 0.168 15 78439667-78468634 bp (-) 78459427 Autosomal Recessive (1;10)
 Autosomal Semidominant (1;4)
excellent candidate 2016-12-07
Anne Murray
 FACS T cells - decreased
 skin/coat/nails
T ⇒ A splice site probably null
71 UTSW Prkcq 0.000 2 11172108-11301222 bp (+) 11226986 Autosomal Recessive (1;4) potential candidate 2016-11-08
Anne Murray
 T-dependent humoral response defect- decreased antibody response to OVA+ alum immunization
G ⇒ A critical splice donor site probably null
72 UTSW Ticam1 0.000 17 56269319-56276786 bp (-) 56276693 Unknown (2;0) no linkage results 2016-10-13
Anne Murray
 TLR signaling defect: hyposensitivity to LPS
 TLR signaling defect: TNF production by macrophages
G ⇒ A critical splice donor site probably benign
73 UTSW Ifngr1 0.000 10 19591949-19610229 bp (+) 19601485 Unknown (1;0)
 Autosomal Dominant (3;12)

 Autosomal Recessive (2;14)
excellent candidate 2016-09-27
Anne Murray
 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
74 UTSW Tyrp1 0.195 4 80834123-80851719 bp (+) 80840806 Autosomal Recessive (1;7) excellent candidate 2016-09-15
Katherine Timer
 pigmentation
 skin/coat/nails
T ⇒ A critical splice donor site probably null
75 UTSW
has photo
Tmprss6 0.168 15 78439667-78468634 bp (-) 78446657 Autosomal Recessive (1;8) good candidate 2016-08-17
Anne Murray
 growth/size
 skin/coat/nails
A ⇒ T splice site probably null
76 UTSW Ruvbl2 1.000 7 45421760-45438096 bp (-) 45431318 Unknown (2;0) no linkage results 2016-05-13
Stephen Lyon
 FACS CD4+ T cells - decreased
 T-dependent humoral response defect- decreased antibody response to rSFV
A ⇒ T critical splice donor site 2 bp probably benign
77 UTSW
has photo
Pax3 0.751 1 78101267-78197134 bp (-) 78122590 Unknown (1;0) no linkage results 2016-05-13
Peter Jurek
 pigmentation
 skin/coat/nails
C ⇒ T critical splice donor site 1 bp probably null
78 UTSW Flt3 0.000 5 147330741-147400489 bp (-) 147366918 Unknown (1;0) no linkage results 2016-05-13
Anne Murray
 FACS CD4:CD8 - increased
 growth/size
 hematopoietic system
 immune system
 MCMV susceptibility
 NK cell response - decreased
C ⇒ T critical splice donor site 1 bp probably null
79 UTSW
has photo
Tgm3 0.104 2 130012349-130050399 bp (+) 130024585 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
 immune system
 RVFV susceptibility
 skin/coat/nails
G ⇒ A critical splice donor site 1 bp probably benign
80 UTSW Tfr2 0.000 5 137569840-137587481 bp (+) 137583153 Unknown no linkage results 2016-05-13
Stephen Lyon
 homeostasis/metabolism
 iron excess
T ⇒ C splice site 2 bp probably benign
81 UTSW
has video
Dst 0.364 1 33908225-34308661 bp (+) 34165155 Autosomal Dominant (1;1)
 Autosomal Recessive (5;18)
potential candidate 2016-05-13
Anne Murray
 behavior/neurological
 Body Weight - decreased
 FACS B1a cells in B1 cells - increased
 FACS CD11c+ DCs - increased
 growth/size
 TLR signaling defect: hypersensitivity to CpG + IFNg
 TLR signaling defect: hyposensitivity to poly I:C
 TLR signaling defect: TNF production by macrophages
T ⇒ C critical splice donor site 2 bp probably null
82 UTSW Slc15a4 0.076 5 127595664-127632897 bp (-) 127608770 Unknown (1;0) no linkage results 2016-05-13
Anne Murray
 response to injected CpG DNA - decreased
 TLR signaling defect: type I IFN production by pDC
A ⇒ T unclassified 2 bp probably benign
83 UTSW Malt1 0.170 18 65430962-65478823 bp (+) 65462915 Autosomal Recessive (2;6)
 Autosomal Semidominant (1;3)
not good candidate 2016-05-13
Anne Murray
 FACS CD8a+ DCs (gated in CD11c+ 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
T ⇒ C critical splice donor site 2 bp probably null
84 UTSW
has photo
Frem1 0.671 4 82897920-83052339 bp (-) 82983060 Unknown no linkage results 2016-05-13
Stephen Lyon
 limbs/digits/tail phenotype
 renal/urinary system
 skin/coat/nails
 vision/eye
A ⇒ G intron 1 bp probably benign
85 UTSW Col4a4 0.318 1 82448423-82586849 bp (-) 82535740 Unknown (1;0) no linkage results 2016-05-13
Stephen Lyon
 digestive/alimentary
 hearing/vestibular/ear
 renal/urinary system
C ⇒ T critical splice donor site 1 bp probably benign
86 APN Atp11c 0.112 X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
C ⇒ T unclassified 1 bp probably benign
87 APN Atp11c 0.112 X 60223290-60592698 bp (-) 36608577 Unknown no linkage results 2016-05-13
Stephen Lyon
 anemia
 FACS B cells - decreased
 hematopoietic system
 homeostasis/metabolism
 immune system
 liver/biliary system
A ⇒ C unclassified 2 bp probably benign
[records 1 to 86 of 86]