CDKL5 Proband Entry



Entry ID: cp254

Systematic name: c.2984T>G

Protein name: p.Phe995Cys

Alternate name(s): p.F995C

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: likely benign variant

Gender: Male

Phenotype: Not Rett syndrome - schizophrenia

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, not known

Source of DNA: blood, lymphoblastoid cell lines

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608666

Source: Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thibodeau, P., Karemera, L., Spiegelman, D., Kuku, F., Duguay, J., Destroismaisons, L., Jolivet, P., Cote, M., Lachapelle, K., Diallo, O., Raymond, A., Marineau, C., Champagne, N., Xiong, L., Gaspar, C., Riviere, J.-B., Tarabeux, J., Cossette, P., Krebs, M.-O., Rapoport, J.L., Addington, A., DeLisi, L.E., Mottron, L., Joober, R., Fombonne, E., Drapeau, P., Rouleau, G.A. (2011) Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Molecular Psychiatry 16:867-880. Pubmed ID: 20479760

Publication ID: S00188-SCZ-G

Comments:

Entry last updated on: 2014-03-13 06:12:16

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