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
- 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
- DDG2P
- 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
- Pigmentary skin disorders
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