CDKL5 Proband Entry



Entry ID: cp302

Systematic name: c.1455_1460delGGCCAA

Protein name: p.Ala486_Lys487del

Alternate name(s): p.A486_K487del

Mutation type: in-frame insertion and/or deletion

Domain: not specified

Pathogenicity class: likely benign variant

Gender: Female

Phenotype: Not Rett syndrome - infantile-onset seizures

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: CSGE, MECP2 negative

Source of DNA: not certain

Familial testing: in unaffected mother

Familial X-inactivation: random in unaffected carrier mother

Control screening: not found in 200/200 chromosomes

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 06:13:10

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.1455_1460delGGCCAA p.Ala486_Lys487del Not known - unaffected family member Female 22867051 Maortua et al (2012) cp303

Displaying a total number of 1 proband entries.