CDKL5 Proband Entry



Entry ID: cp286

Systematic name: c.-253-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 1 to 3)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Yes - deletion at Xp22.13, min size 110 kb, max 190 kb; includes exons 1 to 3 of CDKL5 (by MLPA)

Method of testing: array CGH

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Directly submitted

Comments:

Entry last updated on: 2014-05-15 05:58:20

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_99+?del p.Met1? Not Rett syndrome - X-linked infantile spasm syndrome Female 19807736 Cordova-Fletes et al (2010) cp141
c.[=/-253-?_99+?del] p.[=/Met1?] Not Rett syndrome - severe developmental delay with possible regression Male 21293276 Bartnik et al (2011) cp227
c.-253-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977 Erez et al (2009) cp266

Displaying a total number of 3 proband entries.