Hereditary ataxia with onset in adulthood
Gene: RNF170
On Oxford and Sheffield panels. AD sensory ataxia. Very rare though. Only one group seems to have reported it but is ataxia presenting in adulthood.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.
Only a single missense variant reported, p.Arg199Cys, identified in two different Canadian families. Functional evidence provided in subsequent paper. Single donor seen in gnomAD but adult-onset disorder. Cautiously GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autosomal dominant sensory ataxia 1, 608984
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to RNF170.
Added phenotypes Autosomal dominant sensory ataxia 1, 608984 for gene: RNF170
Source NHS GMS was added to RNF170.
Source Wessex and West Midlands GLH was added to RNF170.
Checked panel against panel constituents. Ready to promote to version 1.
gene: RNF170 was added gene: RNF170 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant