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Intellectual disability syndromic and non-syndromic

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

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Associated with both dyskeratosis congenita (DC), or its more severe form, Hoyeraal-Hreidarsson syndrome (HH syndrome). Infants/Toddlers usually die within the first few years of life.
Majority of the variants are missense variants.

Classified DEFINITIVE by ClinGen ID and Autism GCEP on 13/09/2020 - https://search.clinicalgenome.org/CCID:004651
Created: 13 May 2024, 5:39 a.m. | Last Modified: 13 May 2024, 5:39 a.m.
Panel Version: 0.5798

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

Phenotypes
DKC1-related disorder MONDO:0100152

Publications

  • https://search.clinicalgenome.org/CCID:004651

History Filter Activity

13 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DKC1 were set to

13 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DKC1 were changed from to DKC1-related disorder MONDO:0100152

13 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DKC1 was added gene: DKC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DKC1 was set to Unknown