CDKL5 Proband Entry



Entry ID: cp279

Systematic name: c.[3003C>T;3084G>A]

Protein name: p.=

Alternate name(s): p.[H1001H;T1028T]

Mutation type: combination/multiple mutations

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Rett syndrome - not certain

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, MECP2 mutation negative

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Hadzsiev, K., Polgar, N., Bene, J., Jomlosi, K., Karteszi, J., Hollody, K., Kosztolanyi, G., Renieri, A., Melegh, B. (2011) Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Journal of Human Genetics 56:183-187. Pubmed ID: 21160487

Publication ID: R/157

Comments:

Entry last updated on: 2014-03-13 06:12:43

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cDNA name Protein name Phenotype Gender Reference Proband ID
c.[3003C>T;3084G>A] p.= Not Rett syndrome - developmental delay and seizures Female Directly submitted cp479

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