Bleeding and platelet disorders
Gene: KDSR
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 groupCreated: 18 Feb 2019, 11:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recessive severe thrombocytopenia with progression to marrow fibrosis at young age
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, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recessive severe thrombocytopenia with progression to marrow fibrosis at young age
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, 1:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE)
Note: this is associated to a clinically recognised phenotype characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feetCreated: 18 Mar 2019, 3:35 p.m.
Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green.Created: 18 Mar 2019, 3:33 p.m.
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: KDSR; 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submittedCreated: 18 Feb 2019, 11:28 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: KDSR; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; PMID(s): none submittedCreated: 13 Feb 2019, 11:34 a.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: KDSR; 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: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age (NO OMIM NUMBER OR DISEASE); PMID(s): none submittedCreated: 7 Feb 2019, 1:28 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: KDSR; Suggested intial gene rating: Green List (high evidence); Are variants in this gene as part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Recessive severe thrombocytopenia with progression to marrow fibrosis at young age; (NO OMIM NUMBER OR DISEASE); PMID(s): 30467204Created: 5 Feb 2019, 1:26 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, 11:19 a.m.
Gene: kdsr has been classified as Green List (High Evidence).
Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Source North West GLH was added to KDSR.
Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Source Yorkshire and North East GLH was added to KDSR.
Added phenotypes Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR
Source London South GLH was added to KDSR.
Source NHS GMS was added to KDSR.
Source Expert Review Green was added to KDSR. Mode of inheritance for gene KDSR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes (NO OMIM NUMBER OR DISEASE); Recessive severe thrombocytopenia with progression to marrow fibrosis at young age for gene: KDSR Publications for gene KDSR were changed from to 30467204 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: KDSR was added gene: KDSR was added to Bleeding and platelet disorders. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KDSR was set to