Liver Failure_Paediatric
Gene: SH2D1AEnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 1 Nov 2020, 10:38 p.m.
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
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
- OMIM
- 300490
- Clinvar variants
- Variants in SH2D1A
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh2d1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: sh2d1a has been classified as Green List (High Evidence).
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 Liver Failure_Paediatric. 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 6306053; 9771704 Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Review for gene: SH2D1A was set to GREEN