CDKL5 Variant

Variant ID: cm140
Systematic name: c.-253-?_-163+?del
Protein name: p.0?
Alternate name(s): 5'UTR variation (deletion of exons 1, 1a, 1b)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: likely pathogenic variant
First reference: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Comments: effect on transcription and translation uncertain, but predicted to abolish transcription of allele

Variant last updated on: 2018-06-05 14:40:30

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_-163+?del p.0? Not Rett syndrome - early-onset encephalopathy Female 19793311, Nemos et al (2009) cp92
c.-253-?_-163+?del p.0? Not Rett syndrome - epileptic encephalopathy Male 21770923, Liang et al (2011) cp295

Displaying a total number of 2 proband entries matching this variant.