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