CDKL5 Proband Entry
Entry ID: cp269
Systematic name: c.-253-?_977+?del
Protein name: p.Met1?
Alternate name(s): p.M1? (deletion of exons 1 to 11)
Mutation type: exonic deletion or duplication
Domain: 5'UTR
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Not Rett syndrome - severe encephalopathy
Other mutation:
X-inactivation results: Not applicable
Chromosomal abnormality: Yes - 2.8 Mb deletion at Xp22, over 16 genes including exons 1 to 11 of CDKL5
Method of testing: array CGH
Source of DNA: blood
Familial testing: not in mother
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Van Esch, H., Jansen, A., Bauters, M., Froyen, G., Fryns, J.-P. (2007) Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. American Journal of Medical Genetics A 143A:364-369. Pubmed ID: 17256798
Publication ID:
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.