CDKL5 Proband Entry

Entry ID: cp583

Systematic name: c.1648C>T

Protein name: p.Arg550*

Alternate name(s): p.R550X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608643

Source: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155

Publication ID: patient 4


Entry last updated on: 2019-10-10 11:03:23

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1648C>T p.Arg550* Rett syndrome - early-onset seizure Female 18063413 Pintaudi et al (2008) cp62
c.1648C>T p.Arg550* Not Rett syndrome - early-onset seizures and mental retardation Female 21318334 Rademacher et al (2011) cp224
c.1648C>T p.Arg550* Rett syndrome - atypical Female 22678952 Bahi-Buisson et al (2012) cp458

Displaying a total number of 3 proband entries.