CDKL5 Proband Entry



Entry ID: cp443

Systematic name: c.638G>A

Protein name: p.Gly213Glu

Alternate name(s): p.G213E

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - infantile spasms

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: exome sequencing, ~88% CDKL5 coding sequence

Source of DNA: primary cells

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 436/436 controls

dbSNP ID:

Source: Epi4K Consortium and Epilepsy Phenome/Genome Project (2013) De novo mutations in epileptic encephalopathies. Nature 501:217-221. Pubmed ID: 23934111

Publication ID: dh

Comments: details of mutation given in supplementary information

Entry last updated on: 2014-10-31 04:42:32

Similar entries in the proband database

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