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White matter disorders and cerebral calcification - narrow panel v1.201 | RNF113A | Arina Puzriakova Phenotypes for gene: RNF113A were changed from ?Trichothiodystrophy 5, nonphotosensitive to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v1.14 | RNF113A | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
White matter disorders and cerebral calcification - narrow panel v0.11 | RNF113A |
Ellen McDonagh gene: RNF113A was added gene: RNF113A was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red 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 Phenotypes for gene: RNF113A were set to ?Trichothiodystrophy 5, nonphotosensitive |