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| Chromosome Breakage Disorders v1.5 | RNF113A | Zornitza Stark Marked gene: RNF113A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.5 | RNF113A | Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.5 | RNF113A | Zornitza Stark Classified gene: RNF113A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.5 | RNF113A | Zornitza Stark Gene: rnf113a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v1.4 | RNF113A |
Zornitza Stark gene: RNF113A was added gene: RNF113A was added to Chromosome Breakage Disorders. 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. Sources: Expert Review |
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