Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CDK5

Red List (low evidence)

CDK5 (cyclin dependent kinase 5)
EnsemblGeneIds (GRCh38): ENSG00000164885
EnsemblGeneIds (GRCh37): ENSG00000164885
OMIM: 123831, Gene2Phenotype
CDK5 is in 3 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia 616342
OMIM
123831
Clinvar variants
Variants in CDK5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CDK5 was added gene: CDK5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765, 15067135 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia 616342