Rare anaemia
Gene: SLC2A1
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Stomatocytosis; Pyridoxine-refractory sideroblastic anemia
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia
Variants in this GENE are reported as part of current diagnostic practice
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
608885 Stomatin-deficient cryohydrocytosis with neurologic defects
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: SLC2A1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; 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: SLC2A1; 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, imprinted status unknown; Phenotypes: 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia; 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: SLC2A1; 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: 608885 Stomatin-deficient cryohydrocytosis with neurologic defects; PMID(s): 21791420; 22492876Created: 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: SLC2A1; 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, imprinted status unknown; Phenotypes: Stomatocytosis; Pyridoxine-refractory sideroblastic anemia; PMID(s): 21791420;22492876;15180870;21791420;22492876Created: 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
Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1
Source North West GLH was added to SLC2A1.
Added phenotypes 612126 GLUT1 deficiency without epilepsy and/or hemolytic anemia for gene: SLC2A1
Source Yorkshire and North East GLH was added to SLC2A1.
Added phenotypes 608885 Stomatin-deficient cryohydrocytosis with neurologic defects for gene: SLC2A1 Publications for gene SLC2A1 were changed from 22492876; 21791420; 15180870 to 22492876; 21791420
Source London South GLH was added to SLC2A1.
Source NHS GMS was added to SLC2A1.
Source Expert Review Green was added to SLC2A1. Mode of inheritance for gene SLC2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Pyridoxine-refractory sideroblastic anemia; Stomatocytosis for gene: SLC2A1 Publications for gene SLC2A1 were changed from to 22492876; 21791420; 15180870 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC2A1 was added gene: SLC2A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC2A1 was set to