Genes in panel

Hereditary ataxia - adult onset

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

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels -Hereditary ataxia v1.148 - Brain channelopathy v1.46. This gene was RED and external expert review from Wessex and West Midlands GLH for GMS Neurology specialist test group for R54 agrees this gene should remain RED
Created: 19 Jun 2019, 4:59 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Single family reported, highly consaguineous, intron 8 +1G>A reported in homozygosity in 4 affected patients
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 7 with cerebellar hypoplasia, 616342

Details

Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia, 616342
OMIM
123831
Clinvar variants
Variants in CDK5
Penetrance
None
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Lissencephaly 7 with cerebellar hypoplasia, 616342 for gene: CDK5

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDK5.

14 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CDK5 was added gene: CDK5 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CDK5 was set to