CDKL5 Proband Entry

Entry ID: cp297

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

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - deletion involving CDKL5 (after exon 4), RS1, PPEF1 and PHKA2

Method of testing: array CGH

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: 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

Publication ID: 3


Entry last updated on: 2018-06-05 13:45:42

Similar 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

Displaying a total number of 1 proband entries.