CDKL5 Proband Entry
Entry ID: cp59
Systematic name: c.659T>C
Protein name: p.Leu220Pro
Alternate name(s): p.L220P
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - severe epileptic encephalopathy with infantile spasms
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Not known
Method of testing: DHPLC, exons 2 - 21
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: not found in 100/100 controls
dbSNP ID: rs267608511
Source: Rosas-Vargas, H., Bahi-Buisson, N., Philippe, C., Nectoux, J., Girard, B., N'Guyen Morel, M.A., Gitiaux, C., Lazaro, L., Odent, S., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. J Med Genet 45:172-178. Pubmed ID: 17993579
Publication ID:
Comments:
Entry last updated on: 2018-06-05 13:45:42
Similar entries in the proband database
There are no other entries in the database with a similar genotype.