Early-onset Dementia
Gene: RNF216EnsemblGeneIds (GRCh38): ENSG00000011275
EnsemblGeneIds (GRCh37): ENSG00000011275
OMIM: 609948, Gene2Phenotype
RNF216 is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 3 families reported with dementia as a feature of the condition. Mouse model has deficits in spatial learning and memory.
Sources: Expert listCreated: 6 Feb 2020, 5:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Publications
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
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf216 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf216 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf216 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RNF216 was added gene: RNF216 was added to Early-onset Dementia. Sources: Expert list Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF216 were set to 23656588; 25841028; 27995769 Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Review for gene: RNF216 was set to GREEN