Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
- OMIM
- 609948
- Clinvar variants
- Variants in RNF216
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Hypogonadotropic hypogonadism (GMS)
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: RNF216 was added gene: RNF216 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840