CDKL5 Proband Entry
Entry ID: cp270
Systematic name: c.2497-?_*1085del
Protein name: p.?
Alternate name(s): p.S833fs (deletion of exons 18 to 21)
Mutation type: exonic deletion or duplication
Domain: regulatory C-terminal
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - West syndrome
Other mutation:
X-inactivation results: Yes - 95:5 (derX:normalX)
Chromosomal abnormality: Yes - t(X;18)(p22;p11.2) translocation of chromosomes 18 and X, with breakpoints in PTPRM intron 7 and CDK
Method of testing: karyotype, FISH
Source of DNA: not certain
Familial testing: not in either parent
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Nishimura, A., Takano, T., Mizuguchi, T., Saitsu, H., Takeuchi, Y., Matsumoto, N. (2009) CDKL5 disruption by t(X;18) in a girl with West syndrome. Clinical Genetics 74:288-290. Pubmed ID: 18564362
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
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