CDKL5 Proband Entry
Entry ID: cp292
Systematic name: c.[1238C>G(;)1400A>C]
Protein name: p.[Ser413*(;)His467Pro]
Alternate name(s): p.[S413X;H467P]
Mutation type: combination/multiple mutations
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - epileptic encephalopathy
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: direct, array CGH, CDKL5
Source of DNA: blood
Familial testing: both mutations de novo
Familial X-inactivation:
Control screening: not found in 150/150 chromosomes
dbSNP ID:
Source: Liang, J.-S., Shimojima, K., Takayama, R., Natsume, J., Shichiji, M., Hirasawa, K., Kimai, K., Okanishi, T., Mizuno, S., Okumura, A., Sugawara, M., Ito, T., Ikeda, H., Takahashi, Y., Oguni, H., Imai, K., Osawa, M., Yamamoto, T. (2011) CDKL5 alterations lead to early epileptic encephalopathy in both genders. Epilepsia 52:1835-1842. Pubmed ID: 21770923
Publication ID: 10
Comments:
Entry last updated on: 2018-06-05 13:45:42
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There are no other entries in the database with a similar genotype.