Early onset pancytopenia and red cell disorders
Gene: DKC1EnsemblGeneIds (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, may be caused by monoallelic mutations in females
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- Dyskeratosis congenita, X-linked, 305000
- Dyskeratosis Congenita, X-linked
- DYSKERATOSIS CONGENITA, X-LINKED
- 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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene DKC1 was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list