Rare anaemia
Gene: YARS2
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
Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
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
613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
613561 Myopathy, lactic acidosis, and sideroblastic anemia 2
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, 3:30 p.m. | Last Modified: 22 Jul 2019, 3:30 p.m.
Panel Version: 0.48
Discrepant reviews, to be discussed at July workshop to agree rating.Created: 22 Jul 2019, 3:29 p.m. | Last Modified: 22 Jul 2019, 3:29 p.m.
Panel Version: 0.47
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: YARS2; 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: Myopathy, lactic acidosis, and sideroblastic anemia 2 613561; 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: YARS2; 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: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; 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: YARS2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2; PMID(s): 20598274; 23918765; 22504945Created: 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: YARS2; 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: Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561; PMID(s): 24344687;20598274;24430573Created: 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: yars2 has been classified as Green List (High Evidence).
Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2
Source North West GLH was added to YARS2.
Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2
Source Yorkshire and North East GLH was added to YARS2.
Added phenotypes 613561 Myopathy, lactic acidosis, and sideroblastic anemia 2 for gene: YARS2 Publications for gene YARS2 were changed from 24430573; 24344687; 20598274 to 22504945; 23918765; 20598274
Source London South GLH was added to YARS2.
Source NHS GMS was added to YARS2.
Source Expert Review Amber was added to YARS2. Mode of inheritance for gene YARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 for gene: YARS2 Publications for gene YARS2 were changed from to 24430573; 24344687; 20598274 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: YARS2 was added gene: YARS2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: YARS2 was set to