Activity
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14 actions
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| Fetal anomalies v4.192 | BRCA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1. Tag Q3_24_NHS_review was removed from gene: BRCA1. |
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| Fetal anomalies v4.192 | BRCA1 | Achchuthan Shanmugasundram edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | BRCA1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.44 | BRCA1 | Achchuthan Shanmugasundram Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY; Fanconi anaemia, complementation group S, OMIM:617883 to Fanconi anaemia, complementation group S, OMIM:617883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.43 | BRCA1 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRCA1. Tag Q3_24_NHS_review tag was added to gene: BRCA1. |
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| Fetal anomalies v4.36 | BRCA1 | Achchuthan Shanmugasundram commented on gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | BRCA1 | Natalie Chandler reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865, 29133208, 34680915; Phenotypes: Fanconi anaemia, complementation group S, OMIM:617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | BRCA1 |
Achchuthan Shanmugasundram Source Expert Review Amber was added to BRCA1. Source NHS GMS was added to BRCA1. Added phenotypes Fanconi anaemia, complementation group S, OMIM:617883 for gene: BRCA1 Publications for gene: BRCA1 were updated from to 29712865; 29133208; 34680915 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.149 | BRCA1 |
Rebecca Foulger Source Expert Review Red was added to BRCA1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.148 | BRCA1 | Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.110 | BRCA1 | Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.109 | BRCA1 |
Rebecca Foulger Source Expert Review Amber was added to BRCA1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.7 | BRCA1 | Rebecca Foulger reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | BRCA1 |
Rebecca Foulger gene: BRCA1 was added gene: BRCA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY |
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