Thrombophilia with a likely monogenic cause
Gene: ADAMTS13
Congenital Thrombotic thrombocytopenic Purpura is associated with homozygous or compound heterozygous pathogenic variants in ADAMTS13. Mode of inheritance needs to be changed to just Biallelic.Created: 14 Jun 2021, 2:20 p.m. | Last Modified: 14 Jun 2021, 2:20 p.m.
Panel Version: 1.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:52 a.m. | Last Modified: 8 Mar 2022, 10:52 a.m.
Panel Version: 1.22
Comment on mode of inheritance: Added MOI tag as this should be changed at the next GMS panel update from 'BOTH monoallelic and biallelic' to 'BIALLELIC'. Only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.Created: 23 Mar 2021, 11:48 a.m. | Last Modified: 23 Mar 2021, 11:48 a.m.
Panel Version: 1.6
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
274150 Thrombotic thrombocytopenic purpura, familial
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
274150 Thrombotic thrombocytopenic purpura, familial
Variants in this GENE are reported as part of current diagnostic practice
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
274150 Thrombotic thrombocytopenic purpura, familial
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: ADAMTS13; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; 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: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; 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: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; 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: ADAMTS13; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 274150 Thrombotic thrombocytopenic purpura, familial; PMID(s): 11586351; 12753286; 15009458Created: 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
Tag Q2_21_NHS_review was removed from gene: ADAMTS13. Tag Q2_21_MOI was removed from gene: ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Tag Q2_21_NHS_review tag was added to gene: ADAMTS13.
Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q2_21_MOI was removed from gene: ADAMTS13.
Tag Q2_21_MOI tag was added to gene: ADAMTS13.
Phenotypes for gene: ADAMTS13 were changed from 274150 Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Source North West GLH was added to ADAMTS13.
Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Source Yorkshire and North East GLH was added to ADAMTS13.
Added phenotypes 274150 Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13
Source London South GLH was added to ADAMTS13.
Source Wessex and West Midlands GLH was added to ADAMTS13.
Source NHS GMS was added to ADAMTS13.
gene: ADAMTS13 was added gene: ADAMTS13 was added to Thrombophilia. Sources: Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to 274150 Thrombotic thrombocytopenic purpura, familial