Hereditary ataxia - adult onsetGene: CDK5
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.
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
Lissencephaly 7 with cerebellar hypoplasia, 616342
Added phenotypes Lissencephaly 7 with cerebellar hypoplasia, 616342 for gene: CDK5
Source NHS GMS was added to CDK5.
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