Haematological malignancies cancer susceptibility
Gene: DKC1
DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Bone marrow failure, macrocytosis
- Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Rare anaemia
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Intellectual disability
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
7 Sep 2018, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
30 Jan 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Expert Review Green was added to DKC1. Panel: Haematological malignancies pertinent cancer susceptibility
21 Jun 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Haematological malignanciespanel. Sources: Curated sources
21 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DKC1 was created by ellenmcdonagh