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Growth failure v1.9 RNF113A Zornitza Stark Marked gene: RNF113A as ready
Growth failure v1.9 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Growth failure v1.9 RNF113A Zornitza Stark Classified gene: RNF113A as Green List (high evidence)
Growth failure v1.9 RNF113A Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence).
Growth failure v1.8 RNF113A Zornitza Stark gene: RNF113A was added
gene: RNF113A was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive; OMIM #300953
Review for gene: RNF113A was set to GREEN
Added comment: Four families reported, two with same variant. Clinical features include ID, microcephaly, IUGR/growth failure, hypogonadism, and sparse/brittle hair. One of the families had antenatal presentation.
Sources: Expert Review