Regression
Gene: RNF13EnsemblGeneIds (GRCh38): ENSG00000082996
EnsemblGeneIds (GRCh37): ENSG00000082996
OMIM: 609247, Gene2Phenotype
RNF13 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated individuals with de novo gain-of-function variants in this gene reported; severe neurodegenerative disorder, seizures are a prominent part of the phenotype.
Sources: LiteratureCreated: 2 Jan 2020, 11:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 73, MIM# 618379
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 73, MIM# 618379
- OMIM
- 609247
- Clinvar variants
- Variants in RNF13
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnf13 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RNF13 was added gene: RNF13 was added to Regression_VCGS. Sources: Literature Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF13 were set to 30595371 Phenotypes for gene: RNF13 were set to Epileptic encephalopathy, early infantile, 73, MIM# 618379 Mode of pathogenicity for gene: RNF13 was set to Other Review for gene: RNF13 was set to GREEN