CDKL5 Proband Entry



Entry ID: cp406

Systematic name: c.660_664dup

Protein name: p.Thr222Ilefs*8

Alternate name(s): p.T222IfsX8

Mutation type: frameshift insertion and/or deletion

Domain: catalytic domain

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: not stated, not known

Source of DNA: not stated

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Hagebeuk, E.E.O., van den Bossche, R.A.S., de Weerd, A.W. (2013) Respiratory and sleep disturbances in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental Medicine & Child Neurology 55:480-484. Pubmed ID: 23151060

Publication ID: 2

Comments:

Entry last updated on: 2014-03-13 06:16:27

Similar entries in the proband database

There are no other entries in the database with a similar genotype.