This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
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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 list
- UKGTN
- Eligibility statement prior genetic testing
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Rare anaemia
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
19 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
29 Oct 2015, Gel status: 1
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: UKGTN Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DKC1 was created by ellenmcdonagh
29 Oct 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing