Pulmonary fibrosis familial
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
1 review
Arina Puzriakova (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 16 Feb 2022, 4:02 p.m. | Last Modified: 16 Feb 2022, 4:02 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, X-linked, OMIM:305000
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- None
- 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
16 Feb 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: DKC1 was added gene: DKC1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: DKC1 were set to 21415081; 9590285; 24504062; 30868555; 23946118 Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, OMIM:305000