CDKL5 Proband Entry
Entry ID: cp266
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
Gender: Female
Phenotype: Not Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Yes - 157 kb deletion involving exons 1-3 of CDKL5
Method of testing: array CGH
Source of DNA: blood
Familial testing: mother negative
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: 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
Publication ID: patient 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-?_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? | Rett syndrome - atypical | Female | Directly submitted | cp286 |
Displaying a total number of 3 proband entries.