CDKL5 Proband Entry



Entry ID: cp295

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

Gender: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Yes - nullisomy at Xp22.13 covering exons 1, 1a, 1b of CDKL5

Method of testing: array CGH

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

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: 1

Comments:

Entry last updated on: 2014-03-13 06:13:10

Similar 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

Displaying a total number of 1 proband entries.