CDKL5 Proband Entry

Entry ID: cp449

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 - infantile spasms

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: direct, not stated

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267606715

Source: Zhao, Y., Zhang, X., Bao, X., Zhang, Q., Zhang, J., Cao, G., Zhang, J., Li, J., Wei, L., Pan, H., Wu, X. (2014) Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. BMC Medical Genetics 15:24. Pubmed ID: 24564546

Publication ID: Patient 8


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 - epileptic encephalopathy Male 21770923 Liang et al (2011) cp288
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 - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp454

Displaying a total number of 3 proband entries.