CDKL5 Variant



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Variant ID: cm100
Systematic name: c.-253-?_*1085del
Protein name: p.Met1?
Alternate name(s): p.M1? (whole gene deletion)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
dbSNP ID:

First reference: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792

Comments:

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-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745, Castren et al (2011) cp196
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Male 20493745, Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp202
c.-253-?_*1085del p.? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792, Mei et al (2010) cp202
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp296
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775, Jahn et al (2013) cp418
c.-253-?_*1085del p.? Not Rett syndrome - early-onset epilepsy Female 22832775, Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526, Ermel et al (2013) cp421
c.-253-?_*1085del p.? Rett syndrome - atypical Female 23828526, Ermel et al (2013) cp421
c.-253-?_*1085del p.Met1? Not Rett syndrome Female 25657822, Fehr S et al (2015) cp543
c.-253-?_*1085del p.? Not Rett syndrome Female 25657822, Fehr S et al (2015) cp543

Displaying a total number of 12 proband entries matching this variant.