Activity
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11 actions
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| Fetal anomalies v5.78 | FUZ |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FUZ. Tag Q1_25_ promote_green was removed from gene: FUZ. |
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| Fetal anomalies v5.78 | FUZ | Achchuthan Shanmugasundram edited their review of gene: FUZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | FUZ |
Achchuthan Shanmugasundram Source Expert Review Green was added to FUZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | FUZ |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FUZ. Tag Q1_25_ promote_green tag was added to gene: FUZ. |
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| Fetal anomalies v5.35 | FUZ | Achchuthan Shanmugasundram Phenotypes for gene: FUZ were changed from Skeletal ciliopathy, MONDO:0005308; Neural tube defects 182940 to Skeletal ciliopathy, MONDO:0005308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | FUZ | Achchuthan Shanmugasundram commented on gene: FUZ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | FUZ | Natalie Bibb reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29068549, 34719684, 38702430; Phenotypes: Skeletal ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | FUZ |
Achchuthan Shanmugasundram Source NHS GMS was added to FUZ. Source Expert Review Amber was added to FUZ. Mode of inheritance for gene FUZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Skeletal ciliopathy, MONDO:0005308 for gene: FUZ Publications for gene: FUZ were updated from to 29068549; 34719684; 38702430 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.9 | FUZ | Rebecca Foulger commented on gene: FUZ: DDG2P rating in original PAGE list: Possible. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FUZ | Rebecca Foulger reviewed gene: FUZ: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FUZ |
Rebecca Foulger gene: FUZ was added gene: FUZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FUZ was set to Unknown Phenotypes for gene: FUZ were set to Neural tube defects 182940 |
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