CDKL5 Proband Entry



Entry ID: cp29

Systematic name: c.464-2A>G

Protein name: p.Gly155Alafs*43

Alternate name(s): p.G155fs (IVS7-2A>G)

Mutation type: splicing variant

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - severe epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608480

Source: Evans, J.C., Archer, H.L., Colley, J.P., Ravn, K., Bieber Nielsen, J., Kerr, A., Williams, E., Christodoulou, J., Gecz, J., Jardine, P.E., Wright, M.J., Pilz, D.T., Lazarou, L., Cooper, D.N., Sampson, J.R., Butler, R., Whatley, S.D., Clarke, A.J. (2005) Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120. Pubmed ID: 16015284

Publication ID: 1

Comments:

Entry last updated on: 2014-03-13 06:02:43

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.464-2A>G p.Gly155Alafs*43 Not Rett syndrome - early-onset epileptic encephalopathy Male 23708187 Carvill et al (2013) cp422

Displaying a total number of 1 proband entries.