Familial pulmonary fibrosis
Gene: DKC1EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotype suggested by expert reviewerCreated: 27 Apr 2017, 3:15 p.m.
Philip Molyneaux (Imperial College)
DC - Associated with pulmonary fibrosisCreated: 26 Apr 2017, 9:20 a.m.
Alice Gardham (Genomics England)
Associated with pulmonary fibrosisCreated: 9 Feb 2017, noon
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked 305000
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, X-linked, 305000
- Dyskeratosis congenita associated with pulmonary fibrosis
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DKC1 were set to Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita associated with pulmonary fibrosis
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for DKC1 were set to Dyskeratosis congenita, X-linked, 305000; Dyskeratosis congenita associated with pulmonary fibrosis,
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Alice Gardham (Genomics England)DKC1 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Alice Gardham (Genomics England)DKC1 was created by agardham