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Fetal anomalies

Gene: CDK13

Green List (high evidence)

CDK13 (cyclin dependent kinase 13)
EnsemblGeneIds (GRCh38): ENSG00000065883
EnsemblGeneIds (GRCh37): ENSG00000065883
OMIM: 603309, Gene2Phenotype
CDK13 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOP listed as All missense/in frame.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
OMIM
603309
Clinvar variants
Variants in CDK13
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CDK13 was added gene: CDK13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease