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
dbSNP ID:
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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There are no other entries in the database with a similar genotype.