CDKL5 Proband Entry
Entry ID: cp418
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 - early-onset epilepsy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - 1.09 Mb deletion at Xp22.13 containing CDKL5, RS1, PHAK2, also duplications of 0.22 Mb, 0.19 Mb of P
Method of testing: SNP array
Source of DNA: not stated
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. (2013) CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. Journal of Child Neurology 28:937-941. Pubmed ID: 22832775
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-?_*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 - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
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: cp418
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 - early-onset epilepsy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - 1.09 Mb deletion at Xp22.13 containing CDKL5, RS1, PHAK2, also duplications of 0.22 Mb, 0.19 Mb of P
Method of testing: SNP array
Source of DNA: not stated
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Jahn, J., Caliebe, von Spiczak, S. Boor, R., Stefanova, I., Stephani, U., Helbig, I., Muhle, H. (2013) CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. Journal of Child Neurology 28:937-941. Pubmed ID: 22832775
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-?_*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 - epileptic encephalopathy | Female | 21770923 Liang et al (2011) | cp296 |
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.