Microcephaly
Gene: RNF113A

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)

Two more individuals reported with different variants, at least one had microcephaly, upgrade to Green.
Created: 2 Oct 2021, 10:52 p.m. | Last Modified: 2 Oct 2021, 10:52 p.m.

Panel Version: 1.56

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.
Sources: Literature
Created: 11 Dec 2019, 10:18 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Trichothiodystrophy 5, nonphotosensitive; OMIM #300953

Publications

Created: 11 Dec 2019, 10:18 a.m.

Panel version: 1.58

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Literature

Phenotypes

Trichothiodystrophy 5, nonphotosensitive
OMIM #300953

OMIM

300951

Clinvar variants

Variants in RNF113A

Penetrance

None

Publications

Panels with this gene