Activity
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13 actions
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| Confirmed Fanconi anaemia or Bloom syndrome v0.20 | TOP3A | Louise Daugherty commented on gene: TOP3A: 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: TOP3A; 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: Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.19 | TOP3A | Steve Keeney reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MGRISCE2 (Bloom-like syndrome) 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.18 | TOP3A | Louise Daugherty Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.16 | TOP3A | Louise Daugherty Source North West GLH was added to TOP3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.11 | TOP3A | Louise Daugherty commented on gene: TOP3A: 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: TOP3A; 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: 618097 MGRISCE2 (Bloom-like syndrome); PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.10 | TOP3A | Mandy nesbitt reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.9 | TOP3A | Louise Daugherty Added phenotypes 618097 MGRISCE2 (Bloom-like syndrome) for gene: TOP3A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.7 | TOP3A | Louise Daugherty Source Yorkshire and North East GLH was added to TOP3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.6 | TOP3A | Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.5 | TOP3A | Carl Fratter reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.4 | TOP3A | Louise Daugherty Source NHS GMS was added to TOP3A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.3 | TOP3A |
Louise Daugherty Source Expert Review Green was added to TOP3A. Mode of inheritance for gene TOP3A was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Confirmed Fanconi anaemia or Bloom syndrome v0.2 | TOP3A |
Louise Daugherty gene: TOP3A was added gene: TOP3A was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TOP3A was set to |
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