This Panel is marked as Internal
Anaemias and red cell disorders
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
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
-
- UKGTN
- Expert list
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis congenita, X-linked, 305000
- Dyskeratosis Congenita, X-linked
- DYSKERATOSIS CONGENITA, X-LINKED
- Inherited Bone Marrow Failure Syndromes
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- 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
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Anaemias and red cell disorderspanel. Source: Eligibility statement prior genetic testing
22 Jul 2016, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Anaemias and red cell disorderspanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DKC1 was created by ellenmcdonagh