Hereditary ataxia with onset in adulthood
Gene: TUBA1A
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.
Seems to be predominantely de novo missense variants - ataxia is listed part of phenotype but feels that given extreme brain phenotype other panels may be more appropriateCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lissencephaly 3, 611603
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: TUBA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene: TUBA1A 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: tuba1a has been classified as Green List (High Evidence).
Added phenotypes Lissencephaly 3, 611603 for gene: TUBA1A
Source NHS GMS was added to TUBA1A.
gene: TUBA1A was added gene: TUBA1A was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TUBA1A was set to