Hereditary ataxia - adult onsetGene: TERT
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.
AR form of DKC is associated with cerebellar hypoplasia according to OMIM (no link with AD form) - given various other non-relevant phenotypes linked to AD variants suggest limited to homozygous or compound heterozygous inheritance
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dyskeratosis congenita, 613989
Gene: tert has been classified as Green List (High Evidence).
Mode of inheritance for gene: TERT was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis congenita, 613989 for gene: TERT
Source NHS GMS was added to TERT.
gene: TERT was added gene: TERT was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERT was set to