Hereditary ataxia - adult onsetGene: BRF1
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.
Four families in lit - functional evidence for gene and variants. Also reports of links to Colorectal cancer in HGMDPro
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: BRF1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: brf1 has been classified as Green List (High Evidence).
Added phenotypes Cerebrofaciodental syndrome for gene: BRF1
Source NHS GMS was added to BRF1.
gene: BRF1 was added gene: BRF1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BRF1 was set to