Hereditary ataxia - adult onsetGene: 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 literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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