CDKL5 Proband Entry



Entry ID: cp219

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 - infantile intractable epilepsy

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, CDKL5 Exon 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs35693326

Source: Intusoma, U., Hayeeduereh, F., Plong-On, O., Sripo, T., Vasiknanonte, P., Janjindamai, S., Lusawat, A., Thammongkol, S., Visudtibhan, A., Limprasert, P. (2011) Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity. European Journal of Paediatric Neurology 15:432-438. Pubmed ID: 21775177

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:10:47

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 - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp319
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.