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  2. Ataxia - adult onset
  3. RNF216
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Ataxia - adult onset

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Onset of ataxia is variable and can be from early childhood (ORPHA:1173).
Sources: Expert list
Created: 17 Apr 2020, 1:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840

Created: 17 Apr 2020, 1:25 a.m.

Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.151

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and hypogonadotrophic hypogonadism
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
OMIM
609948
Clinvar variants
Variants in RNF216
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

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 - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotrophic hypogonadism; Cerebellar ataxia and hypogonadotropic hypogonadism, 212840