Rare anaemia
Gene: CD59
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, 2:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, X-linked, 305000
Publications
Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be GreenCreated: 22 Jul 2019, 3:37 p.m. | Last Modified: 22 Jul 2019, 3:37 p.m.
Panel Version: 0.62
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: CD59; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 305000 Dyskeratosis congenita, X-linked; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 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: CD59; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 305000 Dyskeratosis congenita, X-linked; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
Gene rating submitted 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.Created: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
305000 Dyskeratosis congenita, X-linked
Gene: cd59 has been classified as Green List (High Evidence).
Added phenotypes Dyskeratosis congenita, X-linked, 305000 for gene: CD59 Publications for gene CD59 were changed from to 1382994; 23149847; 24382084
Source North West GLH was added to CD59. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: cd59 has been classified as Green List (High Evidence).
Mode of inheritance for gene: CD59 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: CD59
Source NHS GMS was added to CD59.
gene: CD59 was added gene: CD59 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CD59 was set to