CDKL5 Variant
Variant ID: cm100
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
dbSNP ID:
First reference: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792
Comments:
Variant last updated on: 2018-06-05 14:40:30
Matching 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? | 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 6 proband entries matching this variant.