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| Confirmed Fanconi anaemia or Bloom syndrome v2.2 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from 210900 Bloom syndrome; Bloom syndrome, 210900 to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.20 | BLM | Louise Daugherty commented on gene: BLM: 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: BLM; 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: Bloom syndrome 210900; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.19 | BLM | Steve Keeney reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom syndrome, 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.18 | BLM | Louise Daugherty Added phenotypes Bloom syndrome, 210900 for gene: BLM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.16 | BLM | Louise Daugherty Source North West GLH was added to BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.11 | BLM | Louise Daugherty commented on gene: BLM: 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: BLM; Suggested intial 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: 210900 Bloom syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.10 | BLM | Mandy nesbitt reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210900 Bloom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.9 | BLM | Louise Daugherty Added phenotypes 210900 Bloom syndrome for gene: BLM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.7 | BLM | Louise Daugherty Source Yorkshire and North East GLH was added to BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.6 | BLM | Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.5 | BLM | Carl Fratter reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.4 | BLM | Louise Daugherty Source NHS GMS was added to BLM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.3 | BLM |
Louise Daugherty Source Expert Review Green was added to BLM. Mode of inheritance for gene BLM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bloom syndrome, 210900 for gene: BLM Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Confirmed Fanconi anaemia or Bloom syndrome v0.2 | BLM |
Louise Daugherty gene: BLM was added gene: BLM was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: BLM was set to |
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