CDKL5 Proband Entry



Entry ID: cp109

Systematic name: c.-162-?_99+?del

Protein name: p.Met1?

Alternate name(s): p.M1? (deletion of exons 2 and 3)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - not specified

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: DHPLC, MECP2, CDKL5

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Russo, S., Marchi, M., Cogliati, F., Bonati, M.T., Pintaudi, M.,Veneselli, E., Saletti, V., Balestrini, M., Ben-Zeev, B., Larizza, L. (2009) Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 10:241-250. Pubmed ID: 19241098

Publication ID: patient 4

Comments:

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

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cDNA name Protein name Phenotype Gender Reference Proband ID
c.-162-?_99+?del p.Met1? Not Rett syndrome - early-onset seizures Female 19471977 Erez et al (2009) cp268

Displaying a total number of 1 proband entries.