CDKL5 Proband Entry



Entry ID: cp330

Systematic name: c.275_276insAA

Protein name: p.Glu93Metfs*21

Alternate name(s): p.E93MfsX21

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - early-onset epilepsy with severe intellectual disability

Other mutation:

X-inactivation results: No

Chromosomal abnormality: No

Method of testing: not specified, MECP2 negative

Source of DNA: not certain

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:14:38

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