CDKL5 Proband Entry
Entry ID: cp454
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: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - 53:47
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2-21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID: rs267606715
Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952
Publication ID: Patient 5
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 - 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 - infantile spasms | Male | 24564546 Zhao et al (2014) | cp449 |
Displaying a total number of 3 proband entries.