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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 | RNF113A | Arina Puzriakova Tag Q3_21_rating was removed from gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.27 | RNF113A | Arina Puzriakova edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.26 | RNF113A |
Arina Puzriakova Source Expert Review Green was added to RNF113A. Source NHS GMS was added to RNF113A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 | RNF113A | Arina Puzriakova Classified gene: RNF113A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 | RNF113A | Arina Puzriakova Added comment: Comment on list classification: Associated with relevant phenotype in OMIM (MIM# 300953) and as possible Gen2Phen gene for X-linked trichothiodystrophy. At least 3 terminating variants reported in unrelated cases. Supportive functional studies also reported. Upgraded from Red to Amber but this gene should be promoted to Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.15 | RNF113A | Arina Puzriakova Gene: rnf113a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.14 | RNF113A | Arina Puzriakova Publications for gene: RNF113A were set to 25612912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.13 | RNF113A | Arina Puzriakova Tag Q3_21_rating tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.13 | RNF113A | Arina Puzriakova Phenotypes for gene: RNF113A were changed from ?Trichothiodystrophy 5, nonphotosensitive to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.9 | RNF113A | Michael Yau reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 19377476): (PMID: 25612912): (PMID:31793730): (PMID 31880405): (PMID:32152280); Phenotypes: X-linked nonphotosensitive trichothiodystrophy, intellectual disability, partial corpus callosum agenesis, microcephaly, microphallus, hypergonadotropic hypogonadism; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome v2.7 | RNF113A | Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | RNF113A | Ellen McDonagh marked RNF113A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | RNF113A | Ellen McDonagh classified RNF113A as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | RNF113A | Ellen McDonagh added RNF113A to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome | RNF113A | Ellen McDonagh reviewed RNF113A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||