CDKL5 Proband Entry
Entry ID: cp582
Systematic name: c.2152+1G>A
Protein name: p.?
Alternate name(s):
Mutation type: splicing variant
Domain: not specified
Pathogenicity class: likely pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome
Other mutation:
X-inactivation results: Not known
Chromosomal abnormality: Not known
Method of testing: NGS
Source of DNA:
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Lilles, S. Talvik, I. Noormets, K. Vaher, U. Ounap, K. Reimand, T. Sander, V. Ilves, P. Talvik, T. (2016) CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. Neuropediatrics. 47(6):361-367. Pubmed ID: 27599155
Publication ID: patient 3
Comments:
Entry last updated on: 2019-10-10 11:03:23
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There are no other entries in the database with a similar genotype.