Cytopenias and congenital anaemiasGene: SAMD9L
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
Ataxia-pancytopenia syndrome 159550
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Green List (High Evidence).
SAMD9L was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
SAMD9L was created by sleigh