CDKL5 Proband Entry



Entry ID: cp143

Systematic name: c.587C>T

Protein name: p.Ser196Leu

Alternate name(s): p.S196L

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation: also has c.554+11G>A on same allele (paternal)

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 300/300 chromosomes

dbSNP ID: rs267608501

Source: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:08:03

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.587C>T p.Ser196Leu Not Rett syndrome - epileptic encephalopathy Female 22264704 Moseley et al (2012) cp498

Displaying a total number of 1 proband entries.