Adult onset dystonia, chorea or related movement disorder
Gene: RNF216EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 9 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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)
Suggested by Huw and RaquelCreated: 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, OMIM:212840
- OMIM
- 609948
- Clinvar variants
- Variants in RNF216
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hypogonadotropic hypogonadism (GMS)
- Intellectual disability
- Hereditary ataxia
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNF216 were changed from Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 to Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: rnf216 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RNF216.
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