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: 2018-06-05 13:45:42
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.