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Confirmed Fanconi anaemia or Bloom syndrome v0.20 | MAD2L2 | Louise Daugherty commented on gene: MAD2L2: 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: MAD2L2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617243 ?Fanconi anemia, complementation group V; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.19 | MAD2L2 | Steve Keeney reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Fanconi anemia, complementation group V, 617243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.18 | MAD2L2 | Louise Daugherty Added phenotypes ?Fanconi anemia, complementation group V, 617243 for gene: MAD2L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.16 | MAD2L2 | Louise Daugherty Source North West GLH was added to MAD2L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.13 | MAD2L2 | Louise Daugherty Mode of inheritance for gene: MAD2L2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.12 | MAD2L2 | Louise Daugherty Classified gene: MAD2L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.12 | MAD2L2 | Louise Daugherty Gene: mad2l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.11 | MAD2L2 | Louise Daugherty reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.10 | MAD2L2 | Mandy nesbitt reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617243 ?Fanconi anemia, complementation group V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.9 | MAD2L2 | Louise Daugherty Added phenotypes 617243 ?Fanconi anemia, complementation group V for gene: MAD2L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.8 | MAD2L2 | Louise Daugherty Source NHS GMS was added to MAD2L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Confirmed Fanconi anaemia or Bloom syndrome v0.7 | MAD2L2 |
Louise Daugherty gene: MAD2L2 was added gene: MAD2L2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH Mode of inheritance for gene: MAD2L2 was set to |