Rare anaemia
Gene: SLC11A2
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
Anemia, hypochromic microcytic, with iron overload 1, 206100
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
206100 Anemia, hypochromic microcytic, with iron overload 1
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, 3:40 p.m. | Last Modified: 22 Jul 2019, 3:40 p.m.
Panel Version: 0.68
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: SLC11A2; 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: Anemia, hypochromic microcytic, with iron overload 1 206100; 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: SLC11A2; 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: 206100 Anemia, hypochromic microcytic, with iron overload 1; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 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: SLC11A2; 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: Anemia, hypochromic microcytic, with iron overload 1, 206100; PMID(s): 16160008;15459009;16439678Created: 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
Gene: slc11a2 has been classified as Green List (High Evidence).
Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2
Source North West GLH was added to SLC11A2.
Added phenotypes 206100 Anemia, hypochromic microcytic, with iron overload 1 for gene: SLC11A2
Source Yorkshire and North East GLH was added to SLC11A2.
Source NHS GMS was added to SLC11A2.
Source Expert Review Green was added to SLC11A2. Mode of inheritance for gene SLC11A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Anemia, hypochromic microcytic, with iron overload 1, 206100 for gene: SLC11A2 Publications for gene SLC11A2 were changed from to 16160008; 16439678; 15459009 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SLC11A2 was added gene: SLC11A2 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC11A2 was set to