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: 2018-06-05 13:45:42
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.