CDKL5 Proband Entry

Entry ID: cp442

Systematic name: c.379C>T

Protein name: p.His127Tyr

Alternate name(s): p.H127Y

Mutation type: missense

Domain: serine-threonine kinase site

Pathogenicity class: likely pathogenic variant

Gender: Unknown

Phenotype: Not Rett syndrome - Lennox-Gastaut syndrome

Other mutation:

X-inactivation results: No

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


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

Publication ID: ja

Comments: details of mutation given in supplementary information, additional de novo synonymous variant identified in PRDM4 gene

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

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