CDKL5 Proband Entry



Entry ID: cp319

Systematic name: c.2995G>A

Protein name: p.Val999Met

Alternate name(s): p.V999M

Mutation type: missense

Domain: regulatory C-terminal

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: in asymptomatic mother

Familial X-inactivation:

Control screening: found in 1/200 (0.5%) of chromosomes

dbSNP ID: rs35693326

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.[2500C>T;2995G>A] p.Gln834* Rett syndrome - early seizure Female 16813600 Nectoux et al (2006) cp54
c.2995G>A p.Val999Met Not known - unaffected family member Female 16813600 Nectoux et al (2006) cp55
c.2995G>A p.Val999Met Not Rett syndrome - infantile intractable epilepsy Female 21775177 Intusoma et al (2011) cp219
c.2995G>A p.Val999Met Not known - unaffected family member Female 22867051 Maortua et al (2012) cp320
c.2995G>A p.Val999Met Not known - non-RTT control Female 22867051 Maortua et al (2012) cp321
c.2995G>A p.Val999Met Not Rett syndrome - developmental delay (no seizures) Female 23756444 Diebold et al (2014) cp433
c.2995G>A p.Val999Met Not known - unaffected family member Male 23756444 Diebold et al (2014) cp434
c.[1767C>T(;)2995G>A] p.[=(;)Val999Met] Rett syndrome - atypical (early seizure variant) Female 23242510 Das et al (2013) cp439

Displaying a total number of 8 proband entries.