Activity
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| Fetal anomalies v4.192 | RNF113A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A. Tag Q3_24_NHS_review was removed from gene: RNF113A. |
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| Fetal anomalies v4.192 | RNF113A | Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | RNF113A |
Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.89 | RNF113A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A. Tag Q3_24_NHS_review tag was added to gene: RNF113A. |
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| Fetal anomalies v4.36 | RNF113A | Achchuthan Shanmugasundram commented on gene: RNF113A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | RNF113A | Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | RNF113A |
Achchuthan Shanmugasundram gene: RNF113A was added gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS 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 |
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