CDKL5 Proband Entry



Entry ID: cp97

Systematic name: c.533G>C

Protein name: p.Arg178Pro

Alternate name(s): p.R178P

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset encephalopathy

Other mutation:

X-inactivation results: Yes - 60:40

Chromosomal abnormality: Not known

Method of testing: direct, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267606715

Source: Nemos, C., Lambert, L., Giuliano, F., Doray, B., Roubertie, A., Goldenberg, A., Delobel, B., Lyet, V., N'guyen, M.A., Saunier, A., Verneau, F., Jonveaux, P., Philippe, C (2009) Mutation spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical Genetics 76:357-371. Pubmed ID: 19793311

Publication ID: 8

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>C p.Arg178Pro Not Rett syndrome - Severe encephalopathy and early-onset seizures Male 18809835 Elia et al (2008) cp91

Displaying a total number of 1 proband entries.