CDKL5 Proband Entry



Entry ID: cp336

Systematic name: c.1090G>T

Protein name: p.Glu364*

Alternate name(s): p.E364X

Mutation type: nonsense

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - Hanefeld

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not certain

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Pini, G., Bigoni, S., Engerstrom, I.W., Calabrese, O., Felloni, B., Scusa, M.F., di Marco, P., Borelli, P., Bonuccelli, U., Julu, P.O.O., Nielsen, J.B., Morin, B., Hansen, S., Gobbi, G., Visconti, P., Pintaudi, M., Edvige, V., Romanelli, A., Bianchi, F., Casarano, M., Battini, R., Cioni, G., Ariani, F., Renieri, A., Benincasa, A., Delamont, R.S., Zappella, M., ESRRA group (2012) Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics 43:37-43. Pubmed ID: 22430159

Publication ID: 3

Comments:

Entry last updated on: 2014-03-13 06:14:38

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