Hereditary ataxia with onset in adulthood
Gene: RNF216
On Sheffield but not Ox panel. Main paper describes mutations in one consanguineous family, and a compound het in an unrelated patient and single mutations in 3 other unrelated patients. All patients had progressive ataxia and dementia.Created: 27 Apr 2019, 7:39 p.m.
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.
Lots of cases in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotrophic hypogonadism
Source London North GMS was added to RNF216.
Added phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism for gene: RNF216
Source NHS GMS was added to RNF216.
Source Wessex and West Midlands GLH was added to RNF216.
Checked panel against panel constituents. Ready to promote to version 1.
gene: RNF216 was added gene: RNF216 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840