CDKL5 Proband Entry
Entry ID: cp296
Systematic name: c.-253-?_*1085del
Protein name: p.Met1?
Alternate name(s): p.M1? (whole gene deletion)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - deletion involving CDKL5, RS1, PPEF1 and PHKA2
Method of testing: array CGH
Source of DNA: blood
Familial testing: de novo
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: 2
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-?_*1085del | p.Met1? | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-253-?_*1085del | p.Met1? | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
Displaying a total number of 5 proband entries.
Entry ID: cp296
Systematic name: c.-253-?_*1085del
Protein name: p.?
Alternate name(s):
Mutation type: 5'UTR variation
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - deletion involving CDKL5, RS1, PPEF1 and PHKA2
Method of testing: array CGH
Source of DNA: blood
Familial testing: de novo
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: 2
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-?_*1085del | p.Met1? | Not Rett syndrome - epileptic encephalopathy | Male | 20493745 Castren et al (2011) | cp196 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome - early onset epileptic encephalopathy | Female | 19780792 Mei et al (2010) | cp202 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome - early-onset epilepsy | Female | 22832775 Jahn et al (2013) | cp418 |
c.-253-?_*1085del | p.Met1? | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
Displaying a total number of 5 proband entries.