Cytopenias and congenital anaemias
Gene: DKC1EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 15 variants reported.Created: 9 Mar 2017, 11:38 a.m.
Comment on phenotypes: Inherited Bone Marrow Failure SyndromesCreated: 9 Mar 2017, 11:37 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis congenita, X-linked, 305000
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Rare anaemia
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Fetal anomalies
- Proteinuric renal disease
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for DKC1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DKC1 were set to Dyskeratosis congenita; Dyskeratosis congenita, X-linked, 305000
Set publications
Sarah Leigh (Genomics England Curator)Publications for DKC1 were set to 9590285; 9590276; 10217077; 10583221
Created
Louise Daugherty (Genomics England Curator)DKC1 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)DKC1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Eligibility statement prior genetic testing,Expert list,UKGTN