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Cytopenias and congenital anaemias

Gene: SAMD9L

Green List (high evidence)

SAMD9L (sterile alpha motif domain containing 9 like)
EnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

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