Hereditary ataxia with onset in adulthood

Gene: RNF170

Green List (high evidence)

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.

I don't know

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.

Green List (high evidence)

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 Green

Created: 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