Infantile enterocolitis & monogenic inflammatory bowel disease
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: X-linked recessive/hemizygous according to OMIM and G2P.Created: 12 Oct 2016, 11:33 a.m.
Comment on list classification: Clear evidence for association with Dyskeratosis congenita, X-linked, with multiple cases and different variants reported, which includes Immunodeficiency as part of the clinical profile therefore unsure whether this should be included in this panel.Created: 12 Oct 2016, 11:33 a.m.
Neil shah (GOSH)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Hoyeraal Hreidarsson Syndrome
- Dyskeratosis congenita, X-linked
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Proteinuric renal disease
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Pulmonary fibrosis familial
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Pigmentary skin disorders
- Haematological malignancies for rare disease
- Rare anaemia
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
History Filter Activity
14 Oct 2016, Gel status: 2
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.
12 Oct 2016, Gel status: 2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DKC1 were set to Hoyeraal Hreidarsson Syndrome;Dyskeratosis congenita, X-linked
12 Oct 2016, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DKC1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
12 Oct 2016, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
10 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)DKC1 was created by ellenmcdonagh
10 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DKC1 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list