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
dbSNP ID:
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
Comments:
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.