CDKL5 Proband Entry
Entry ID: cp421
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: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - 1.6 Mb deletion at Xp22.13 encompassing the whole CDKL5 gene, as well as NHS
Method of testing: array CGH, not known
Source of DNA: not stated
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. (2013) Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 71:414-415. Pubmed ID: 23828526
Publication ID: Case 2
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.-253-?_*1085del | p.Met1? | 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.Met1? | 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.Met1? | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
Displaying a total number of 5 proband entries.
Entry ID: cp421
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: Rett syndrome - atypical
Other mutation:
X-inactivation results: No
Chromosomal abnormality: Yes - 1.6 Mb deletion at Xp22.13 encompassing the whole CDKL5 gene, as well as NHS
Method of testing: array CGH, not known
Source of DNA: not stated
Familial testing: de novo
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Ermel, E.L., Carneiro, L.C., de Souza, C.F.M., de Souza Crippa, A.C., Sanseverino, M.T.V., Raskin, S. (2013) Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients. Arq Neuropsiquiatr 71:414-415. Pubmed ID: 23828526
Publication ID: Case 2
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.-253-?_*1085del | p.Met1? | 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.Met1? | 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.Met1? | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
Displaying a total number of 5 proband entries.