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: 2014-03-13 06:12:43

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