Red cell disorders
Gene: DKC1EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Pancytopaenia rather than a red cell disorder.Created: 19 May 2021, 10:49 a.m. | Last Modified: 16 Sep 2021, 7:59 a.m.
Panel Version: 0.170
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Publications
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dyskeratosis congenita, X-linked 305000
- Hoyeraal-Hreidarsson Syndrome
- OMIM
- 300126
- Clinvar variants
- Variants in DKC1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Red cell disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- Pulmonary Fibrosis_Interstitial Lung Disease
- Inflammatory bowel disease
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dkc1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DKC1 were changed from 305000 Dyskeratosis congenita, X-linked to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DKC1 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes 305000 Dyskeratosis congenita, X-linked for gene: DKC1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DKC1 was added gene: DKC1 was added to Rare anaemia_GEL. Sources: NHS GMS,Expert Review Red,Yorkshire and North East GLH 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 305000 Dyskeratosis congenita, X-linked