Hair disorders
Gene: RNF113AEnsemblGeneIds (GRCh38): ENSG00000125352
EnsemblGeneIds (GRCh37): ENSG00000125352
OMIM: 300951, Gene2Phenotype
RNF113A is in 8 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
5 families with 3 different truncating variants, with the diagnostic hair features of trichothiodystrophy and evidence in patient cells supporting a mechanism of loss of function.Created: 29 Jul 2020, 12:18 a.m. | Last Modified: 18 Mar 2021, 10:07 p.m.
Panel Version: 0.39
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
1 family of 2 male cousins with IUGR, progressive microcephaly, profound ID, genital anomalies, and severe linear growth failure, and nonsense Q301X mutation in RNF113A gene. Segregated with disease in the family. The mutation markedly reduced RNF113A protein expression in extracts from lymphoblastoid cell lines derived from the affected individuals.
2 fetuses affected with abnormalities similar to previous report, with the same nonsense Q301X mutation in RNF113A gene. ?Founder effect.Created: 11 Dec 2019, 10:15 a.m. | Last Modified: 11 Dec 2019, 10:15 a.m.
Panel Version: 0.242
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Trichothiodystrophy 5, nonphotosensitive; OMIM #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
- Literature
- Victorian Clinical Genetics Services
- Phenotypes
-
- Trichothiodystrophy 5, nonphotosensitive, 300953
- OMIM
- 300951
- Clinvar variants
- Variants in RNF113A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf113a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RNF113A was added gene: RNF113A was added to Hair disorders. Sources: Literature,Expert Review Green 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 31332722 Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, 300953