Confirmed Fanconi anaemia or Bloom syndrome
Gene: FANCM
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test group.Created: 14 Feb 2019, 4:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614087Fanconi anemia, complementation group M
Variants in this GENE are reported as part of current diagnostic practice
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 RedCreated: 22 Jul 2019, 11:21 a.m. | Last Modified: 22 Jul 2019, 11:21 a.m.
Panel Version: 0.26
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 fragilityCreated: 22 Jul 2019, 11:18 a.m. | Last Modified: 22 Jul 2019, 11:21 a.m.
Panel Version: 0.25
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 submittedCreated: 14 Feb 2019, 4:52 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: FANCM; Suggested intial gene rating: Red List (low evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group M, 614087; PMID(s): 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene; 19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA; 25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia.Created: 6 Feb 2019, 1:26 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 1:26 p.m.
Gene: fancm has been classified as Red List (Low Evidence).
Publications for gene: FANCM were set to 19423727; 25078778; 16116422
Added phenotypes 614087Fanconi anemia, complementation group M for gene: FANCM
Source Yorkshire and North East GLH was added to FANCM.
Source NHS GMS was added to FANCM.
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
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