Rare anaemia
Gene: PKLR
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
PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate kinase deficiency, 266200
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
266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder; Pyruvate 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
266200 Pyruvate kinase deficiency
Publications
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: PKLR; 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: PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency, 266200; 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: PKLR; 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: 266200 PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate 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: PKLR; 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: 266200 Pyruvate kinase deficiency; PMID(s): 7706479; 8664896; 14014643Created: 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: PKLR; 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: PYRUVATE KINASE DEFICIENCY;Enzyme Disorder;Pyruvate kinase deficiency, 266200; PMID(s): 8579052;8616073;8664896;15982340;15953013;1549130;18420493;1896471Created: 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.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: PKLR were changed from Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200 to Pyruvate kinase deficiency, OMIM:266200
Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR
Source North West GLH was added to PKLR.
Added phenotypes Pyruvate kinase deficiency; 266200 PYRUVATE KINASE DEFICIENCY; Enzyme Disorder for gene: PKLR
Source Yorkshire and North East GLH was added to PKLR.
Added phenotypes 266200 Pyruvate kinase deficiency for gene: PKLR Publications for gene PKLR were changed from 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052 to 7706479; 14014643; 8664896
Source London South GLH was added to PKLR.
Source NHS GMS was added to PKLR.
Source Expert Review Green was added to PKLR. Mode of inheritance for gene PKLR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency, 266200; Enzyme Disorder for gene: PKLR Publications for gene PKLR were changed from to 8616073; 1896471; 15982340; 8664896; 18420493; 15953013; 1549130; 8579052 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PKLR was added gene: PKLR was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: PKLR was set to