Rare anaemia
Gene: AK1
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
Hemolytic anemia due to adenylate kinase deficiency, 612631
Publications
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
612631 Hemolytic anemia due to adenylate kinase deficiency
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
612631 Hemolytic anemia due to adenylate kinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.Created: 22 Jul 2019, 3:22 p.m. | Last Modified: 22 Jul 2019, 3:22 p.m.
Panel Version: 0.38
Discrepant reviews, to be discussed at July workshop to agree rating.Created: 22 Jul 2019, 3:21 p.m. | Last Modified: 22 Jul 2019, 3:21 p.m.
Panel Version: 0.37
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: AK1; 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: Hemolytic anemia due to adenylate kinase deficiency, 612631; 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: AK1; 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: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: AK1; 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: 612631 Hemolytic anemia due to adenylate kinase deficiency; PMID(s): 10233365; 9432020; 12649162Created: 8 Feb 2019, 3:49 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: AK1; 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: Hemolytic anemia due to adenylate kinase deficiency, 612631; PMID(s): none submittedCreated: 6 Feb 2019, 12:14 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, 12:13 p.m.
Gene: ak1 has been classified as Green List (High Evidence).
Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Publications for gene AK1 were changed from 10233365; 9432020; 12649162 to 28211224
Source North West GLH was added to AK1.
Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1
Source Yorkshire and North East GLH was added to AK1.
Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency for gene: AK1 Publications for gene AK1 were changed from to 10233365; 9432020; 12649162
Source London South GLH was added to AK1.
Source NHS GMS was added to AK1.
Source Expert Review Amber was added to AK1. Mode of inheritance for gene AK1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: AK1 was added gene: AK1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: AK1 was set to