Ataxia - paediatric
Gene: RNF216
RNF216 (ring finger protein 216)
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Onset of ataxia is variable and can be from early childhood (ORPHA:1173).
Sources: Expert listCreated: 17 Apr 2020, 1:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
- OMIM
- 609948
- Clinvar variants
- Variants in RNF216
- Penetrance
- None
- Panels with this gene
History Filter Activity
17 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf216 has been classified as Green List (High Evidence).
17 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf216 has been classified as Green List (High Evidence).
17 Apr 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RNF216 was added gene: RNF216 was added to Ataxia - paediatric. Sources: Expert list 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 MIM#212840 Review for gene: RNF216 was set to GREEN