Cytopenias and congenital anaemias
Gene: SAMD9L
SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels
1 review
Sarah Leigh (Genomics England Curator)
Functional studies presented in PMID: 28202457 suggest that gain of function variants in the tumour suppressor gene SAMD9L cause cytopenia, immunodeficiency, variable neurological presentation, and predisposition to MDS with -7/del(7q), whereas hematopoietic revertant mosaicism commonly ameliorated clinical manifestations.Created: 4 May 2017, 10:18 a.m.
Gain of function variants appear to be relevant to the phenotype. Associated with phenotype in OMIM and as a possible G2P. At least 3 variants reported.Created: 4 May 2017, 10:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ataxia-pancytopenia syndrome 159550
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ataxia-pancytopenia syndrome 159550
- OMIM
- 611170
- Clinvar variants
- Variants in SAMD9L
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- COVID-19 research
- Intellectual disability
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Haematological malignancies cancer susceptibility
History Filter Activity
4 May 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 May 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SAMD9L was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
4 May 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SAMD9L was created by sleigh