Hereditary ataxia with onset in adulthood
Gene: SAMD9L
Multiple families. Ataxia integral part of the phenotype. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Sufficient families in the literature for Green - variants appear to be gain of function. Note that two papers demonstrate disorder limited to haematopoetic abnormalities giving rise to myelodysplaic sydrome (also AML reported) so caution advisedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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
Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene: SAMD9L was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: samd9l has been classified as Green List (High Evidence).
Source London North GMS was added to SAMD9L.
Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Source NHS GMS was added to SAMD9L.
gene: SAMD9L was added gene: SAMD9L was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SAMD9L was set to