CDKL5 Variant

   CSV explantation text

Variant ID: cm106
Systematic name: c.146-?_*1085del
Protein name: p.?
Alternate name(s): p.E49fs (deletion of exons 5 to 21)
Mutation type: exonic deletion or duplication
Domain: catalytic domain
Pathogenicity class: pathogenic variant

First reference: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923


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.146-?_*1085del p.? Not Rett syndrome - early onset epileptic encephalopathy Female 21802232, Saitsu et al (2012) cp205
c.146-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923, Liang et al (2011) cp297

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