Ductal plate malformation
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
Ivone Leong (Genomics England Curator)
Demoted from amber to red as insufficient evidenceCreated: 12 Nov 2018, 1:55 p.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosis congenita, X-linked (305000)
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- None
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Rare anaemia
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Intellectual disability
- Ataxia and cerebellar anomalies - narrow panel
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Proteinuric renal disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from amber to red as i
12 Nov 2018, Gel status: 1
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to DKC1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
6 Nov 2018, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DKC1 was added gene: DKC1 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked (305000)