CDKL5 Proband Entry
Entry ID: cp301
Systematic name: c.745-?_825+?del
Protein name: p.Phe249_Lys275del
Alternate name(s): p.F249_K275del (exon 10 deletion)
Mutation type: exonic deletion or duplication
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - infantile-onset seizures
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: MLPA, MECP2 negative
Source of DNA: not certain
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Maortua, H., Martinez-Bouzas, C., Calvo, M.-T., Domingo, M.-R., Ramos, F., Garcia-Ribes, A., Martinez, M.-J., Lopez-Ariztegui, M.-A., Puente, N., Rubio, I., Tejada, M.-I. (2012) CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC Medical Genetics 13:68. Pubmed ID: 22867051
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.