CDKL5 Proband Entry



Entry ID: cp98

Systematic name: c.532C>T

Protein name: p.Arg178Trp

Alternate name(s): p.R178W

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset encephalopathy

Other mutation:

X-inactivation results: Yes - 73:27

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: rs267608493

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: 9

Comments:

Entry last updated on: 2014-03-13 06:06:39

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.532C>T p.Arg178Trp Rett syndrome - congenital onset Female Directly submitted cp265
c.532C>T p.Arg178Trp Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp335
c.532C>T p.Arg178Trp Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp455

Displaying a total number of 3 proband entries.