Iron metabolism disorders - NOT common HFE mutations
Gene: TMPRSS6
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, 11:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
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: 13 Feb 2019, 12:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA
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, 5:24 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
206200 Iron-refractory iron deficiency anemia
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: TMPRSS6; 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: 206200.IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submittedCreated: 18 Feb 2019, 11:49 a.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: TMPRSS6; 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: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): none submittedCreated: 13 Feb 2019, 12:39 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: TMPRSS6; 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: 206200 Iron-refractory iron deficiency anemia; PMID(s): 18408718; 19357398Created: 8 Feb 2019, 5:25 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: TMPRSS6; Suggested initial 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: 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA; IRIDA; PMID(s): 28476747; 25588876; 23729726Created: 5 Feb 2019, 5:51 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: 5 Feb 2019, 5:50 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Source North West GLH was added to TMPRSS6.
Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6
Source Yorkshire and North East GLH was added to TMPRSS6.
Added phenotypes 206200 Iron-refractory iron deficiency anemia for gene: TMPRSS6 Publications for gene TMPRSS6 were changed from 25588876; 28476747; 23729726 to 19357398; 18408718
Source London South GLH was added to TMPRSS6.
Source NHS GMS was added to TMPRSS6.
Source Expert Review Green was added to TMPRSS6. Mode of inheritance for gene TMPRSS6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes IRIDA; 206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA for gene: TMPRSS6 Publications for gene TMPRSS6 were changed from to 25588876; 28476747; 23729726 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TMPRSS6 was added gene: TMPRSS6 was added to Iron metabolism disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TMPRSS6 was set to