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: 2018-06-05 13:45:42
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.