CDKL5 Proband Entry



Entry ID: cp425

Systematic name: c.2564C>G

Protein name: p.Ser855*

Alternate name(s): p.S855X

Mutation type: nonsense

Domain: regulatory C-terminal

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - infantile spasms

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: targeted sequencing, 65 genes, CDKL5 covered at ~95% at >25x

Source of DNA: not stated

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Carvill, G.L., Heavin, S.B., Yendle, S.C., McMahon, J.M., O'Roak, B.J., Cook, J., Khan, A., Dorschner, M.O., Waver, M., Calbert, S., Malone, S., Wallace, G., Stanley, T., Bye, A.M.E., Bleasel, A., Howell, K.B., Kivity, S., Mackay, M.T., Rodriguez-Casero, V., Webster, R., Korczyn, A., Afawi, Z., Zelnick, N., Lerman-Sagie, T., Lev, D., Moller, R.S., Gill, D., Andrade, D.M., Freeman, J.L., Saleir, L.G., Shendure, J., Berkovic, S.F., Scheffer, I.E., Mefford, H.C. (2013) Targeted resequencing in epileptic encephalopathies identified de novo mutations in CHD2 and SYNGAP1. Nature Genetics 45:825-830. Pubmed ID: 23708187

Publication ID: T897

Comments:

Entry last updated on: 2014-10-31 04:40:12

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2564C>G p.Ser855* Not Rett syndrome - early onset seizures Female Directly submitted cp475

Displaying a total number of 1 proband entries.