Hereditary ataxia

Gene: RNF170

Green List (high evidence)

RNF170 (ring finger protein 170)
EnsemblGeneIds (GRCh38): ENSG00000120925
EnsemblGeneIds (GRCh37): ENSG00000120925
OMIM: 614649, Gene2Phenotype
RNF170 is in 5 panels

2 reviews

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:19 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Decent evidence in literature. Mode of pathogenicity: dominant negative?/gain-of-function.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Ataxia, sensory, 1, autosomal dominant

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
OMIM
614649
Clinvar variants
Variants in RNF170
Penetrance
Complete
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RNF170 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

RNF170 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RNF170 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN