Genomics England
GMS Panels
Panels
Genes and Entities

CDK5

cyclin dependent kinase 5
OMIM: 123831
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342, lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342, lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342, lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342, lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596