CDKL5 Proband Entry

Entry ID: cp342

Systematic name: c.464-1G>A

Protein name: p.?

Alternate name(s): intronic variation

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - early-onset seizure

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2, CDKL5, FOXG1 and SCN1A

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No


Source: Willemsen, M.H., Rensen, J.H.M., van Schrojenstein-Lantman de Valk, H.M.J., Hamel, B.C.J., Kleefstra, T. (2012) Adult phenotypes in Angelman- and Rett-like syndromes. Mol Syndromol 2:217-234. Pubmed ID: 22670143

Publication ID: patient 4


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

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