DKC1

Gene Symbol:
DKC1
HGNC:2890
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Definitive classifications

dyskeratosis congenita, X-linked
Submitted as: OMIM:305000
XL
08/20/2024
Evaluated
07/02/2025
Submitted
dyskeratosis congenita, X-linked
XL
09/22/2025
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Variants in DKC1 were first reported in 1998 (Heiss NS et al., PMID: 9590285) in relation to X-li... Read more

DKC1-related disorder
XL
09/13/2020
Evaluated
12/05/2025
Submitted
ClinGen
Evidence:

Variants in DKC1 have been reported since the 1990s, when patients exhibiting characteri... Read more

Strong classifications

dyskeratosis congenita, X-linked
Submitted as: OMIM:305000
XL
02/24/2023
Evaluated
11/30/2023
Submitted

Supportive classifications

dyskeratosis congenita
Submitted as: Orphanet:1775
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Hoyeraal-Hreidarsson syndrome
Submitted as: Orphanet:3322
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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