CDKL5 Proband Entry



Entry ID: cp5

Systematic name: c.[145+17A>G;3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: found 2/267 chromosomes

dbSNP ID:

Source: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549

Publication ID:

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.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp6
c.[145+17A>G;3003C>T;3084G>A] p.= Not known - normal control Unknown 15499549 Tao et al (2004) cp7
c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp328
c.[145+17A>G;3003C>T;3084G>A] p.= Not Rett syndrome - epilepsy, Rett-like Female 22867051 Maortua et al (2012) cp329

Displaying a total number of 4 proband entries.