CDKL5 Proband Entry

Entry ID: cp525

Systematic name: c.-162-?_99+?

Protein name: p.?

Alternate name(s):

Mutation type: 5'UTR variation

Domain: 5'UTR

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: No

Familial X-inactivation:

Control screening: No


Source: Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:


Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-162-?_99+?del p.Met1? Rett syndrome - not specified Female 19241098 Russo et al (2009) cp109
c.-162-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977 Erez et al (2009) cp268

Displaying a total number of 2 proband entries.