CDKL5 Proband Entry



Entry ID: cp357

Systematic name: c.506_507delCA

Protein name: p.Thr169Argfs*36

Alternate name(s): p.T169RfsX36

Mutation type: frameshift insertion and/or deletion

Domain: TEY phosphorylation site

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: HRM, DHPLC, MECP2 negative

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID: 4

Comments:

Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.506_507delCA p.Thr169Argfs*36 Not Rett syndrome Female 25657822 Fehr S et al (2015) cp559
c.506_507delCA p.Thr168Argfs*36 Not Rett syndrome Female 25657822 Fehr S et al (2015) cp559

Displaying a total number of 2 proband entries.
Entry ID: cp357

Systematic name: c.506_507delCA

Protein name: p.Thr168Argfs*36

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: TEY phosphorylation site

Pathogenicity class: pathogenic variant

Gender: Male

Phenotype: Not Rett syndrome - early-onset seizures

Other mutation:

X-inactivation results: Not applicable

Chromosomal abnormality: Not known

Method of testing: HRM, DHPLC, MECP2 negative

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044

Publication ID: 4

Comments:

Entry last updated on: 2018-06-05 13:45:42

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.506_507delCA p.Thr169Argfs*36 Not Rett syndrome Female 25657822 Fehr S et al (2015) cp559
c.506_507delCA p.Thr168Argfs*36 Not Rett syndrome Female 25657822 Fehr S et al (2015) cp559

Displaying a total number of 2 proband entries.