CDKL5 Proband Entry



Entry ID: cp427

Systematic name: c.533G>A

Protein name: p.Arg178Gln

Alternate name(s): p.R178Q

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - early-onset epileptic encephalopathy

Other mutation:

X-inactivation results: Not applicable

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: rs267606715

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: T23951

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.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Male 21770923 Liang et al (2011) cp288
c.533G>A p.Arg178Gln Not Rett syndrome - infantile spasms Male 24564546 Zhao et al (2014) cp449
c.533G>A p.Arg178Gln Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp454

Displaying a total number of 3 proband entries.