CDKL5 Proband Entry



Entry ID: cp329

Systematic name: c.[145+17A>G;3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not Rett syndrome - epilepsy, Rett-like

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: CSGE, MECP2 negative

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:13:49

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.[145+17A>G;3003C>T;3084G>A] p.= Rett syndrome - not certain Female 15499549 Tao et al (2004) cp5
c.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp6
c.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp7
c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp328

Displaying a total number of 4 proband entries.