Disorders of immune dysregulation
Gene: SH2D1A
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Samantha Ayres (Victorian Clinical Genetics Services)
Well established gene-disease relationship.
A primary immunodeficiency characterized by severe immune dysregulation often after viral infection, typically with Epstein-Barr virus (EBV). It is a complex phenotype manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis (HLH), and/or malignant lymphoma. Other features may include aplastic anemia, red cell aplasia, and lymphomatoid granulomatosis. Liver dysfunction, hepatic necrosis and liver failure reported.Created: 19 Apr 2022, 4:17 a.m. | Last Modified: 19 Apr 2022, 4:17 a.m.
Panel Version: 0.13061
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Victorian Clinical Genetics Services
- OMIM
- 300490
- Clinvar variants
- Variants in SH2D1A
- Penetrance
- None
- Panels with this gene
-
- Disorders of immune dysregulation
- Predominantly Antibody Deficiency
- Mackenzie's Mission_Reproductive Carrier Screening
- Additional findings_Paediatric
- Prepair 1000+
- Liver Failure_Paediatric
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Cataract
- Susceptibility to Viral Infections
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SH2D1A was added gene: SH2D1A was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: SH2D1A was set to Unknown