1. Panels
  2. Ataxia - adult onset
  3. RNF170
Regions in panel
Prev Next

Ataxia - adult onset

Gene: RNF170

Green List (high evidence)
RNF170 (ring finger protein 170)
EnsemblGeneIds (GRCh38): ENSG00000120925
EnsemblGeneIds (GRCh37): ENSG00000120925
OMIM: 614649, Gene2Phenotype
RNF170 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recurrent p.Arg199Cys variant identified in at least 3 families. Note bi-allelic variants cause SPG.
Created: 10 Jan 2022, 7:02 a.m. | Last Modified: 10 Jan 2022, 7:02 a.m.
Panel Version: 0.143

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ataxia, sensory, 1, autosomal dominant, MIM# 608984

Publications

Created: 10 Jan 2022, 7:02 a.m.
Last Modified: 10 Jan 2022, 7:02 a.m.
Panel version: 0.143

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant, MIM# 608984
OMIM
614649
Clinvar variants
Variants in RNF170
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf170 has been classified as Green List (High Evidence).

10 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNF170 were changed from Ataxia, sensory, 1, autosomal dominant; Autosomal dominant sensory ataxia 1, 608984 to Ataxia, sensory, 1, autosomal dominant, MIM# 608984

10 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNF170 were set to

10 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RNF170 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RNF170 was added gene: RNF170 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Autosomal dominant sensory ataxia 1, 608984