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Lymphoproliferative syndrome with absent SAP expression
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #308240) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 7:13 p.m. | Last Modified: 20 Dec 2025, 7:13 p.m.
Panel Version: 1.2
SH2D1A has been added to the panel for R17 Lymphoproliferative syndrome with absent SAP expression with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:25 p.m. | Last Modified: 30 Jun 2023, 2:25 p.m.
Panel Version: 0.1
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
- NHS GMS
- Phenotypes
-
- Lymphoproliferative syndrome, X-linked, 1, OMIM:308240
- X-linked lymphoproliferative disease due to SH2D1A deficiency, MONDO:0024551
- OMIM
- 300490
- Clinvar variants
- Variants in SH2D1A
- Penetrance
- None
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SH2D1A were changed from to Lymphoproliferative syndrome, X-linked, 1, OMIM:308240; X-linked lymphoproliferative disease due to SH2D1A deficiency, MONDO:0024551
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SH2D1A was added gene: SH2D1A was added to Lymphoproliferative syndrome with absent SAP expression. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females