Confirmed Fanconi anaemia or Bloom syndrome
Gene: FANCB
Gene rating submitted 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.Created: 18 Feb 2019, 2:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
300514 Fanconi anemia, complementation group B
Variants in this GENE are reported as part of current diagnostic practice
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: FANCB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia; PMID(s): none submittedCreated: 18 Feb 2019, 2:40 p.m.
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: FANCB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300514 Falcon anemia Fanconi anemia, complementation group B; 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: FANCB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia; PMID(s): none submittedCreated: 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.
Added phenotypes Fanconi Anaemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
Source North West GLH was added to FANCB.
Added phenotypes 300514 Fanconi anemia, complementation group B for gene: FANCB
Source Yorkshire and North East GLH was added to FANCB.
Source NHS GMS was added to FANCB.
Source Expert Review Green was added to FANCB. Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Fanconi Anaemia; Falcon anemia; Fanconi Anemia Type B; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked for gene: FANCB Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: FANCB was added gene: FANCB was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: FANCB was set to