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  2. Lissencephaly and Band Heterotopia
  3. CDK5
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Lissencephaly and Band Heterotopia

Gene: CDK5

Amber List (moderate evidence)
CDK5 (cyclin dependent kinase 5)
EnsemblGeneIds (GRCh38): ENSG00000164885
EnsemblGeneIds (GRCh37): ENSG00000164885
OMIM: 123831, Gene2Phenotype
CDK5 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.
Created: 21 Dec 2022, 10:25 p.m. | Last Modified: 21 Dec 2022, 10:25 p.m.
Panel Version: 1.12
Single consanguineous family with multiple affected individuals reported, lissencephaly prominent.
Sources: Expert list
Created: 27 Apr 2020, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342

Publications

Created: 27 Apr 2020, 11:33 a.m.

Panel version: 1.12

Details

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

History Filter Activity

21 Dec 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDK5 were set to 25560765

21 Dec 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5 has been classified as Amber List (Moderate Evidence).

27 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdk5 has been classified as Red List (Low Evidence).

27 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDK5 was added gene: CDK5 was added to Lissencephaly and Band Heterotopia. Sources: Expert list Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342 Review for gene: CDK5 was set to RED