Hereditary ataxia
Gene: RNF216
RNF216 (ring finger protein 216)
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 9 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: format amendmentsCreated: 27 Nov 2017, 1:23 p.m.
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Evidence from OMIM and expert reviewerCreated: 4 Feb 2016, 5:12 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Fine. Good evidence in lit.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellarataxiaandhypogonadotropichypogonadism,212840
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
- OMIM
- 609948
- Clinvar variants
- Variants in RNF216
- Penetrance
- Complete
- 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
27 Nov 2017, Gel status: 3
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
24 Aug 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RNF216 was changed to BIALLELIC, autosomal or pseudoautosomal
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: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RNF216 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen