CDKL5 Proband Entry
Entry ID: cp360
Systematic name: c.526T>G
Protein name: p.Trp176Gly
Alternate name(s): p.W176G
Mutation type: missense
Domain: catalytic domain
Pathogenicity class: pathogenic variant
Gender: Female
Phenotype: Not Rett syndrome - early-onset seizures
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Not known
Method of testing: HRM, DHPLC, MECP2 negative
Source of DNA: blood
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Raymond, L., Diebold, B., Leroux, C., Maurey, H., Drouin-Garraud, V., Delahaye, A., Dulac, O., Metreau, J., Melikishvili, G., Toutain, A., Rivier, F., Bahi-Buisson, N., Bienvenu, T. (2013) Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations. Gene 512:70-75. Pubmed ID: 23064044
Publication ID: 2
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.