CDKL5 Proband Entry



Entry ID: cp205

Systematic name: c.146-?_*1085del

Protein name: p.?

Alternate name(s): p.E49fs (deletion of exons 5 to 21)

Mutation type: exonic deletion or duplication

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early onset epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - 78:22

Chromosomal abnormality: Yes - 138 kb deletion at Xp22.13 (hg18 X:18493457-18631052) including CDKL5 exons 5 to 21, RS1 and part of

Method of testing: array CGH, STXBP1 negative

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Saitsu, H., Osaka, H., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Matsumoto, N. (2012) A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5. Brain & Development 34:364-367. Pubmed ID: 21802232

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:10:47

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.146-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp297

Displaying a total number of 1 proband entries.