CDKL5 Proband Entry



Entry ID: cp333

Systematic name: c.283-3_290del11

Protein name: p.Asn95Ilefs*2

Alternate name(s): p.N95IfsX2

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: 4

Comments:

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

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.283-3_290del11 p.Asn95Ilefs*2 Rett syndrome - atypical Female 23151060 Hagebeuk et al (2013) cp407

Displaying a total number of 1 proband entries.