CDKL5 Proband Entry



Entry ID: cp408

Systematic name: c.2635_2636delCT

Protein name: p.Leu879Glufs*30

Alternate name(s): p.L879fs

Mutation type: frameshift insertion and/or deletion

Domain: regulatory C-terminal

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: rs61753251

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: 4

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.2635_2636delCT p.Leu879Glufs*30 Rett syndrome - early seizure Female 15689447 Scala et al (2005) cp20
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp75
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp76
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - epileptic encephalopathy Female 22678952 Bahi-Buisson et al (2012) cp459
c.2635_2636delCT p.Leu879Glufs*30 Not Rett syndrome - ISSX Female 22678952 Bahi-Buisson et al (2012) cp460

Displaying a total number of 5 proband entries.