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Clefting

Gene: CDK13

Red List (low evidence)
CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Clefting was reported only in a minor proportion of patients with monoallelic CDK13 variants.

PMID:29222009 - One of three patients reported with de novo heterozygous CDK13 variants had submucosal cleft palate.

DECIPHER database - Only one of 42 patients reported with heterozygous sequence variants in CDK13 gene had orofacial cleft as one of the phenotypes.
Sources: Literature
Created: 14 Aug 2023, 4:40 p.m. | Last Modified: 14 Aug 2023, 4:42 p.m.
Panel Version: 4.91

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 14 Aug 2023, 4:40 p.m.
Last Modified: 14 Aug 2023, 4:42 p.m.
Panel version: 4.91

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
OMIM
603309
Clinvar variants
Variants in CDK13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Aug 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CDK13 was added gene: CDK13 was added to Clefting. Sources: Literature Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK13 were set to 29222009; 37010288 Review for gene: CDK13 was set to RED