Haematological malignancies cancer susceptibility
Gene: SH2D1A
SH2D1A (SH2 domain containing 1A)
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000183918
EnsemblGeneIds (GRCh37): ENSG00000183918
OMIM: 300490, Gene2Phenotype
SH2D1A is in 7 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: miscellaneous
- Lymphoproliferative disease
- Lymphoma
- OMIM
- 300490
- Clinvar variants
- Variants in SH2D1A
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies for rare disease
- Haematological malignancies cancer susceptibility
- Lymphoproliferative syndrome with absent SAP expression
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to SH2D1A. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SH2D1A was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SH2D1A was created by ellenmcdonagh