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Prepair 1000+

Gene: DKC1

Green List (high evidence)
DKC1 (dyskerin pseudouridine synthase 1)
EnsemblGeneIds (GRCh38): ENSG00000130826
EnsemblGeneIds (GRCh37): ENSG00000130826
OMIM: 300126, Gene2Phenotype
DKC1 is in 16 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Dyskeratosis congenita (DKC) is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, hepatopulmonary syndrome, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, gastrointestinal disease (esophageal strictures or enteropathy), and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy, including hematologic malignancy and squamous cell carcinoma, is an important feature. The disorder is caused by defects in the maintenance of telomeres
Created: 3 Jan 2025, 3:26 a.m. | Last Modified: 3 Jan 2025, 3:26 a.m.
Panel Version: 1.986

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Dyskeratosis congenita, X-linked MIM#305000

Publications

Created: 3 Jan 2025, 3:26 a.m.
Last Modified: 3 Jan 2025, 3:26 a.m.
Panel version: 1.986

History Filter Activity

3 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: dkc1 has been classified as Green List (High Evidence).

3 Jan 2025, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: DKC1 were changed from Dyskeratosis congenita, X-linked, 305000 (3) to Dyskeratosis congenita, X-linked MIM#305000

3 Jan 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: DKC1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Dyskeratosis congenita, X-linked, 305000 (3) for gene: DKC1

1 Jun 2022, Gel status: 3

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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)