Rare anaemia
Gene: DKC1
Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to RedCreated: 22 Jul 2019, 3:37 p.m. | Last Modified: 22 Jul 2019, 3:37 p.m.
Panel Version: 0.61
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 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, X-linked; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
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, 4:04 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
305000 Dyskeratosis congenita, X-linked
Variants in this GENE are reported as part of current diagnostic practice
Gene: dkc1 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: DKC1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: dkc1 has been classified as Green List (High Evidence).
Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
Source NHS GMS was added to DKC1.
gene: DKC1 was added gene: DKC1 was added to Rare anaemia. Sources: Yorkshire and North East GLH Mode of inheritance for gene: DKC1 was set to