CDKL5 Proband Entry



Entry ID: cp407

Systematic name: c.283-3_290del11

Protein name: p.Asn95Ilefs*2

Alternate name(s): p.N95IfsX2

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: 3

Comments:

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

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.283-3_290del11 p.Asn95Ilefs*2 Not Rett syndrome - early-onset epilepsy with severe intellectual disability Female 21765152 Stalpers et al (2012) cp333

Displaying a total number of 1 proband entries.