Hereditary ataxia with onset in adulthood
Gene: SAMD9LEnsemblGeneIds (GRCh38): ENSG00000177409
EnsemblGeneIds (GRCh37): ENSG00000177409
OMIM: 611170, Gene2Phenotype
SAMD9L is in 11 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Multiple families. Ataxia integral part of the phenotype. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Ataxia-pancytopenia syndrome, 159550
- OMIM
- 611170
- Clinvar variants
- Variants in SAMD9L
- Penetrance
- None
- 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
-
- 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
- Hereditary neuropathy or pain disorder
- DDG2P
- Haematological malignancies cancer susceptibility
History Filter Activity
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of pathogenicity
Louise Daugherty (Genomics England Curator)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
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: samd9l has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to SAMD9L.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ataxia-pancytopenia syndrome, 159550 for gene: SAMD9L
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SAMD9L.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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