CDKL5 Proband Entry



Entry ID: cp30

Systematic name: c.2376+1G>C

Protein name: p.Lys760Tyrfs*10

Alternate name(s): p.K760fs (IVS16+1G>C)

Mutation type: splicing variant

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - West syndrome

Other mutation:

X-inactivation results: Yes - 52:48

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: rs267608656

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: 2

Comments:

Entry last updated on: 2014-03-13 06:05:23

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