Genes in panel

Adult onset movement disorder

Gene: RNF216

Green List (high evidence)

RNF216 (ring finger protein 216)
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 23 Apr 2019, 1:13 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
OMIM
609948
Clinvar variants
Variants in RNF216
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2019, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rnf216 has been classified as Green List (High Evidence).

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RNF216.

23 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RNF216 was added gene: RNF216 was added to Adult onset movement disorder. Sources: London North GLH Mode of inheritance for gene: RNF216 was set to