| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Confirmed Fanconi anaemia or Bloom syndrome v0.26 | FANCM | Louise Daugherty Classified gene: FANCM as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.26 | FANCM | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.26 | FANCM | Louise Daugherty Gene: fancm has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.25 | FANCM |
Louise Daugherty changed review comment from: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating. LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility; to: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating. LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24 (PMID: 28837162 ). Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.25 | FANCM | Louise Daugherty Publications for gene: FANCM were set to 19423727; 25078778; 16116422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | FANCM |
Louise Daugherty changed review comment from: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.; to: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating. LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.24 | FANCM | Louise Daugherty commented on gene: FANCM: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.11 | FANCM | Louise Daugherty commented on gene: FANCM: 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: FANCM; 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: 614087Fanconi anemia, complementation group M; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.10 | FANCM | Mandy nesbitt reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614087Fanconi anemia, complementation group M; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.9 | FANCM | Louise Daugherty Added phenotypes 614087Fanconi anemia, complementation group M for gene: FANCM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.7 | FANCM | Louise Daugherty Source Yorkshire and North East GLH was added to FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.6 | FANCM | Louise Daugherty reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.5 | FANCM | Carl Fratter reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.4 | FANCM | Louise Daugherty Source NHS GMS was added to FANCM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.3 | FANCM |
Louise Daugherty Source Expert Review Red was added to FANCM. Mode of inheritance for gene FANCM was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group M, 614087 for gene: FANCM Publications for gene FANCM were changed from to 19423727; 25078778; 16116422 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Confirmed Fanconi anaemia or Bloom syndrome v0.2 | FANCM |
Louise Daugherty gene: FANCM was added gene: FANCM was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FANCM was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||