CDKL5 Proband Entry

Entry ID: cp585

Systematic name: c.197_198delCT

Protein name: p.Leu67Glnfs*23

Alternate name(s): p.L67QfsX23

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: de novo

Familial X-inactivation:

Control screening: No


Source: Gokben, S. Onay, H. Yilmaz, S. Atik, T. Serdaroglu, G. Tekin, H. Ozkinay, F. (2017) Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy . Acta neurologica Belgica 117(1):131-138. Pubmed ID: 27734276

Publication ID:


Entry last updated on: 2019-10-10 11:03:23

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