1. Panels
  2. Susceptibility to Viral Infections
  3. SH2D1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Susceptibility to Viral Infections

Gene: SH2D1A

Green List (high evidence)
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 29 Apr 2020, 8:30 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Host response to EBV infection; Lymphoproliferative syndrome, X-linked, 1 308240

Publications

Created: 29 Apr 2020, 8:30 a.m.

Panel version: 0.42

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Host response to EBV infection
  • Lymphoproliferative syndrome, X-linked, 1 308240
OMIM
300490
Clinvar variants
Variants in SH2D1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh2d1a has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh2d1a has been classified as Green List (High Evidence).

29 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SH2D1A was added gene: SH2D1A was added to Susceptibility to Viral Infections. Sources: Expert list Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SH2D1A were set to 9771704 Phenotypes for gene: SH2D1A were set to Host response to EBV infection; Lymphoproliferative syndrome, X-linked, 1 308240 Review for gene: SH2D1A was set to GREEN