CDKL5 Proband Entry
Entry ID: cp286
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: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - deletion at Xp22.13, min size 110 kb, max 190 kb; includes exons 1 to 3 of CDKL5 (by MLPA)
Method of testing: array CGH
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Directly submitted
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? | Not Rett syndrome - early-onset seizures | Female | 19471977 Erez et al (2009) | cp266 |
Displaying a total number of 3 proband entries.