Phenotypic Mutations

3 mutations affecting 3 genes are currently displayed.

Mutations Mapped and Identified Based on Phenotype
[records 1 to 3 of 3] per page Full List
 
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1 UTSW Elmo1 0.000 13 20090596-20608353 bp (+) 20600212 Autosomal Dominant (3;7)
 Autosomal Recessive (5;19)
excellent candidate 2019-03-21
Diantha La Vine
 FACS B cells - decreased
 FACS B1 cells - increased
 FACS B1a cells in B1 cells - decreased
 FACS CD4:CD8 - decreased
 FACS CD4+ T cells in CD3+ T cells - decreased
 FACS CD8+ T cells in CD3+ T cells - increased
 FACS IgD+ B cell percentage - decreased
 FACS IgM+ B cells - decreased
C ⇒ G nonsense probably null
2 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
3 UTSW Irf1 0.000 11 53770014-53778374 bp (+) 53771322 Autosomal Recessive (4;52)
 Autosomal Semidominant (2;12)
excellent candidate 2018-12-18
Anne Murray
 FACS CD4:CD8 - 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
[records 1 to 3 of 3]