Haematological malignancies for rare disease
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
-
- Curated sources
- Expert Review Green
- 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
- None
- Publications
- Panels with this gene
-
- Pigmentary skin disorders
- DDG2P
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Cytopenia - NOT Fanconi anaemia
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Rare anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Proteinuric renal disease
- Fetal anomalies
- Haematological malignancies for rare disease
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
History Filter Activity
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Green,Curated sources
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)DKC1 was created by Ellen McDonagh