Early-onset Dementia

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)

At least 3 families reported with dementia as a feature of the condition. Mouse model has deficits in spatial learning and memory.
Sources: Expert list
Created: 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

6 Feb 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).

6 Feb 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).

6 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rnf216 has been classified as Red List (Low Evidence).

6 Feb 2020, Gel status: 1

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