CDKL5 Variant

Variant ID: cm92
Systematic name: c.-253-?_99+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 1 to 3)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
First reference: Erez, A., Patel, A.J., Wang, X., Xia, Z., Bhatt, S.S., Craigen, W., Cheung, S.W., Lewis, R.A., Fang, P., Davenport, S.L.H., Stankiewicz, P., Lalani, S.R. (2009) Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics 10:363-369. Pubmed ID: 19471977


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-?_99+?del p.Met1? Not Rett syndrome - X-linked infantile spasm syndrome Female 19807736, Cordova-Fletes et al (2010) cp141
c.[=/-253-?_99+?del] p.[=/Met1?] Not Rett syndrome - severe developmental delay with possible regression Male 21293276, Bartnik et al (2011) cp227
c.-253-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977, Erez et al (2009) cp266
c.-253-?_99+?del p.Met1? Rett syndrome - atypical Female Directly submitted cp286

Displaying a total number of 4 proband entries matching this variant.