Ataxia and cerebellar anomalies - narrow panel
Gene: DKC1EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Although ataxia is a rare feature of Dyskeratosis congenita, X-linked OMIM: 305000, cerebella hyplasia is seen; especially amongst cases classified as Hoyeraal-Hreidarsson syndrome (PMID:10700698;18627054;12437656).Created: 14 Apr 2021, 1:29 p.m. | Last Modified: 14 Apr 2021, 1:29 p.m.
Panel Version: 2.95
Zornitza Stark (Australian Genomics)
Ataxia is not a prominent feature of this condition, I can only find one case report, combination of features could be coincidental.Created: 12 Sep 2020, 3:10 a.m. | Last Modified: 12 Sep 2020, 3:10 a.m.
Panel Version: 2.12
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked, MIM# 305000
Publications
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
- dyskeratosis congenita, X-linked MONDO:0010584
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Intellectual disability
- 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
- 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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DKC1 were set to 9590285; 9886310; 10921354; 33734615; 10583221
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DKC1 were set to 9590285; 9886310; 10921354
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: DKC1 were changed from X-linked dyskeratosis congenita to Dyskeratosis congenita, X-linked OMIM:305000; dyskeratosis congenita, X-linked MONDO:0010584
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DKC1 were set to 9590285; 9886310
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: DKC1 was added gene: DKC1 was added to Ataxia and cerebellar anomalies - narrow panel. 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 9590285; 9886310 Phenotypes for gene: DKC1 were set to X-linked dyskeratosis congenita