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| Confirmed Fanconi anaemia or Bloom syndrome v1.14 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Fanconi anemia; 617883 Fanconi anemia, complementation group S to Fanconi anemia, complementation group S, OMIM:617883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | BRCA1 | Louise Daugherty changed review comment from: Discrepant reviews for BRCA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.; to: Discrepant reviews for BRCA1 : 3 GLH GREEN (YNEGLH, NWGLH, LSGLH), 1 GLH AMBER (WWMGLH). To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | BRCA1 | Louise Daugherty Classified gene: BRCA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | BRCA1 | Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | BRCA1 | Louise Daugherty Gene: brca1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.23 | BRCA1 | Louise Daugherty commented on gene: BRCA1: Discrepant reviews for BRCA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.20 | BRCA1 | Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.19 | BRCA1 | Steve Keeney reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.18 | BRCA1 | Louise Daugherty Added phenotypes Fanconi anemia for gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.16 | BRCA1 | Louise Daugherty Source North West GLH was added to BRCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.11 | BRCA1 | Louise Daugherty commented on gene: BRCA1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: BRCA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617883 Fanconi anemia, complementation group S; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.10 | BRCA1 | Mandy nesbitt reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617883 Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.9 | BRCA1 | Louise Daugherty Added phenotypes 617883 Fanconi anemia, complementation group S for gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.7 | BRCA1 | Louise Daugherty Source Yorkshire and North East GLH was added to BRCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.6 | BRCA1 | Louise Daugherty reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.5 | BRCA1 | Carl Fratter reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.4 | BRCA1 | Louise Daugherty Source NHS GMS was added to BRCA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.3 | BRCA1 |
Louise Daugherty Source Expert Review Amber was added to BRCA1. Mode of inheritance for gene BRCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia for gene: BRCA1 Publications for gene BRCA1 were changed from to 25472942; 28122244; 26644450 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Confirmed Fanconi anaemia or Bloom syndrome v0.2 | BRCA1 |
Louise Daugherty gene: BRCA1 was added gene: BRCA1 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BRCA1 was set to |
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