CDKL5 Proband Entry

Entry ID: cp495

Systematic name: c.745-?_2276+?del

Protein name: p.Phe249Glufs*4

Alternate name(s): p.F249fs

Mutation type: exonic deletion or duplication

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Moseley, B.D., Dhamija, R., Wirrell, E.C., Nickels, K.C. (2012) Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. Pediatric Neurology 46:101-105. Pubmed ID: 22264704

Publication ID: E

Comments: same patient in Mirzaa et al 2013 (LR11-048) Pubmed: 23583054

Entry last updated on: 2018-06-05 13:45:42

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