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Intellectual disability syndromic and non-syndromic

Gene: CDK10

Green List (high evidence)

CDK10 (cyclin dependent kinase 10)
EnsemblGeneIds (GRCh38): ENSG00000185324
EnsemblGeneIds (GRCh37): ENSG00000185324
OMIM: 603464, Gene2Phenotype
CDK10 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Al Kaissi syndrome MIM#617694

Lyndon Gallacher (Victorian Clinical Genetics Services)

Windpassinger et al. (2017) identified nine individuals from five unrelated families with homozygous variants in CDK10. Two of these families shared the same (splice region) variant and were from the same country. The other three had different splice, frameshift and deletion (of exon 2 and 3) variants. All variants are predicted to result in nonsense-mediated-decay or internal truncation and cause loss of function of CDK10. Reduced levels of CDK10 in patient fibroblasts compared to controls. Knockout mice showed growth retardation and lethality.
Created: 30 Nov 2022, 6:19 a.m. | Last Modified: 30 Nov 2022, 6:19 a.m.
Panel Version: 0.5040

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe growth retardation; spine malformation; facial dysmorphisms; developmental delay; intellectual disability

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Al Kaissi syndrome MIM#617694
OMIM
603464
Clinvar variants
Variants in CDK10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk10 has been classified as Green List (High Evidence).

1 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDK10 were changed from to Al Kaissi syndrome MIM#617694

1 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK10 were set to

1 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDK10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK10 was added gene: CDK10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK10 was set to Unknown