Confirmed Fanconi anaemia or Bloom syndrome
Gene: MAD2L2
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Fanconi anemia, complementation group V, 617243
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 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: MAD2L2; Suggested intial 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 submittedCreated: 14 Feb 2019, 4:52 p.m.
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
617243 ?Fanconi anemia, complementation group V
Added phenotypes ?Fanconi anemia, complementation group V, 617243 for gene: MAD2L2
Source North West GLH was added to MAD2L2.
Mode of inheritance for gene: MAD2L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mad2l2 has been classified as Amber List (Moderate Evidence).
Added phenotypes 617243 ?Fanconi anemia, complementation group V for gene: MAD2L2
Source NHS GMS was added to MAD2L2.
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