CDKL5 Proband Entry



Entry ID: cp543

Systematic name: c.-253-?_*1085del

Protein name: p.Met1?

Alternate name(s): p.M1? (whole gene deletion)

Mutation type: exonic deletion or duplication

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
c.-253-?_*1085del p.? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421
c.-253-?_*1085del p.? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421

Displaying a total number of 10 proband entries.
Entry ID: cp543

Systematic name: c.-253-?_*1085del

Protein name: p.?

Alternate name(s):

Mutation type: 5'UTR variation

Domain: 5'UTR

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome

Other mutation:

X-inactivation results: Not known

Chromosomal abnormality: Not known

Method of testing: Not stated

Source of DNA:

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID:

Source: Fehr S,Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J (2015) There is variability in the attainment of developmental milestones in the CDKL5 disorder. J Neurodev Disord. 7:2. Pubmed ID: 25657822

Publication ID:

Comments:

Entry last updated on: 2018-10-22 14:41:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Male 20493745 Castren et al (2011) cp196
c.-253-?_*1085del p.Met1? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
c.-253-?_*1085del p.? Not Rett syndrome - early onset epileptic encephalopathy Female 19780792 Mei et al (2010) cp202
c.-253-?_*1085del p.Met1? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.? Not Rett syndrome - epileptic encephalopathy Female 21770923 Liang et al (2011) cp296
c.-253-?_*1085del p.Met1? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.? Not Rett syndrome - early-onset epilepsy Female 22832775 Jahn et al (2013) cp418
c.-253-?_*1085del p.Met1? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421
c.-253-?_*1085del p.? Rett syndrome - atypical Female 23828526 Ermel et al (2013) cp421

Displaying a total number of 10 proband entries.