Hereditary ataxia with onset in adulthood
Gene: CA8
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.
Two good families in lit (plus third singleton), functional evidence for the Ser100Pro variantCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Added phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 for gene: CA8
Source NHS GMS was added to CA8.
Source Wessex and West Midlands GLH was added to CA8.
Checked panel against panel constituents. Ready to promote to version 1.
gene: CA8 was added gene: CA8 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3