Cytopenia - NOT Fanconi anaemia
Gene: DKC1
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, 2:55 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita; Dyskeratosis congenita, X-linked, 305000
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, 5:39 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
305000 Dyskeratosis congenita
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, 1:36 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
305000 Dyskeratosis congenita
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: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000; PMID(s): none submittedCreated: 18 Feb 2019, 2:57 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: DKC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): none submittedCreated: 14 Feb 2019, 5:40 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: DKC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: 305000 Dyskeratosis congenita; PMID(s): 9888995; 11379875; 10364516Created: 8 Feb 2019, 1:43 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: DKC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: Dyskeratosis congenita;Dyskeratosis congenita, X-linked, 305000; PMID(s): 9590285;9590276;10217077;10583221Created: 6 Feb 2019, 3:13 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, 3:12 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1
Source North West GLH was added to DKC1.
Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1
Source Yorkshire and North East GLH was added to DKC1.
Added phenotypes 305000 Dyskeratosis congenita for gene: DKC1 Publications for gene DKC1 were changed from 10583221; 9590285; 9590276; 10217077 to 10364516; 9888995; 11379875
Source London South GLH was added to DKC1.
Source NHS GMS was added to DKC1.
Source Expert Review Green was added to DKC1. Mode of inheritance for gene DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita for gene: DKC1 Publications for gene DKC1 were changed from to 10583221; 9590285; 9590276; 10217077 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DKC1 was added gene: DKC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DKC1 was set to