CDKL5 Proband Entry



Entry ID: cp288

Systematic name: c.533G>A

Protein name: p.Arg178Gln

Alternate name(s): p.R178Q

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: direct, array CGH, CDKL5

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 150/150 chromosomes

dbSNP ID: rs267606715

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: 6

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.533G>A p.Arg178Gln Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187 Carvill et al (2013) cp427
c.533G>A p.Arg178Gln Not Rett syndrome - infantile spasms Male 24564546 Zhao et al (2014) cp449
c.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp454

Displaying a total number of 3 proband entries.