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Genetic Epilepsy

Gene: RNF113A

Green List (high evidence)

RNF113A (ring finger protein 113A)
EnsemblGeneIds (GRCh38): ENSG00000125352
EnsemblGeneIds (GRCh37): ENSG00000125352
OMIM: 300951, Gene2Phenotype
RNF113A is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Seizures reported in a proportion of affected individuals.
Sources: Expert Review
Created: 24 Aug 2023, 6:46 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Trichothiodystrophy 5, nonphotosensitive, MIM#300953

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Trichothiodystrophy 5, nonphotosensitive, MIM#300953
OMIM
300951
Clinvar variants
Variants in RNF113A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf113a has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnf113a has been classified as Green List (High Evidence).

24 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNF113A was added gene: RNF113A was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: RNF113A were set to 25612912; 31880405; 31793730; 29133357; 30506991; 15256591; 24026126; 23555887 Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, MIM#300953 Review for gene: RNF113A was set to GREEN