Activity
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4 actions
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| DDG2P v3.12 | RNF113A | Achchuthan Shanmugasundram reviewed gene: RNF113A: Rating: RED; Mode of pathogenicity: ; Publications: 25612912; Phenotypes: X-LINKED TRICHOTHIODYSTROPHY; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.8 | RNF113A | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | RNF113A | Rebecca Foulger reviewed gene: RNF113A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RNF113A |
Rebecca Foulger gene: RNF113A was added gene: RNF113A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype 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 Phenotypes for gene: RNF113A were set to X-LINKED TRICHOTHIODYSTROPHY |
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