CDKL5 Proband Entry
Entry ID: cp295
Systematic name: c.-253-?_-163+?del
Protein name: p.0?
Alternate name(s): 5'UTR variation (deletion of exons 1, 1a, 1b)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Yes - nullisomy at Xp22.13 covering exons 1, 1a, 1b of CDKL5
Method of testing: array CGH
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923
Publication ID: 1
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.-253-?_-163+?del | p.0? | Not Rett syndrome - early-onset encephalopathy | Female | 19793311 Nemos et al (2009) | cp92 |
Displaying a total number of 1 proband entries.