Thrombophilia with a likely monogenic cause
Gene: HRG
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, 1:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613116 Thrombophilia due to HRG deficiency
Gene rating submitted by Mandy Nesbitt SheffieldDiagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North EastGLH for the GMS Haematology specialist test groupCreated: 14 Feb 2019, 1:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613116 Thrombophilia due to HRG deficiency
Gene rating submitted by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 7 Feb 2019, 2:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
613116 Thrombophilia due to HRG deficiency
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: HRG; 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submittedCreated: 18 Feb 2019, 1:51 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: HRG; Suggested intial 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submittedCreated: 14 Feb 2019, 2:01 p.m.
Initial gene list (Consensus Genes for Panels_Bleeding and Thrombosis_South London.xlsx) collated by Mike Mitchell Viapath St. Thomas' Hospital January 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: HRG; Suggested intial 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): none submittedCreated: 7 Feb 2019, 2:49 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: HRG; 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: 613116 Thrombophilia due to HRG deficiency; PMID(s): 9414276; 11057869; 10920255Created: 5 Feb 2019, 7:23 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, 7:23 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HRG were changed from 613116 Thrombophilia due to HRG deficiency to Thrombophilia due to HRG deficiency, OMIM:613116
Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Source North West GLH was added to HRG.
Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Source Yorkshire and North East GLH was added to HRG.
Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG
Source London South GLH was added to HRG.
Source NHS GMS was added to HRG.
Source Expert Review Green was added to HRG. Mode of inheritance for gene HRG was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes 613116 Thrombophilia due to HRG deficiency for gene: HRG Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HRG was added gene: HRG was added to Thrombophilia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: HRG was set to