CDKL5 Proband Entry
Entry ID: cp334
Systematic name: c.1784dupG
Protein name: p.Leu596Thrfs*15
Alternate name(s): p.L596TfsX15
Mutation type: frameshift insertion and/or deletion
Domain: not specified
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset epilepsy with severe intellectual disability
Other mutation:
X-inactivation results: No
Chromosomal abnormality: No
Method of testing: not specified, MECP2 negative
Source of DNA: not certain
Familial testing: not in mother, father DNA not available
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Stalpers, X., Spruijt, L., Yntema, H.G., Verrips, A. (2012) Clinical phenotype of 5 females with a CDKL5 mutation. Journal of Child Neurology 27:90-93. Pubmed ID: 21765152
Publication ID: 5
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.