CDKL5 Proband Entry
Entry ID: cp202
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 - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Yes - 960 kb deletion at Xp22.3 (including exon 1 of SCML2, CDKL5, RS1, PPEF1, PHKA2, GPR64)
Method of testing: MLPA, CDKL5 point mutation negative
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792
Publication ID: Patient 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 - 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? | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
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: cp202
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 - early onset epileptic encephalopathy
Other mutation:
X-inactivation results: Yes - random
Chromosomal abnormality: Yes - 960 kb deletion at Xp22.3 (including exon 1 of SCML2, CDKL5, RS1, PPEF1, PHKA2, GPR64)
Method of testing: MLPA, CDKL5 point mutation negative
Source of DNA: blood
Familial testing: No
Familial X-inactivation:
Control screening: No
dbSNP ID:
Source: Mei, D., Marini, C., Novara, F., Bernardina, B.D., Granata, T., Fontana, E., Parrini, E., Ferrari, A.R., Murgia, A., Zuffardi, O., Guerrini, R. (2010) Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 51:647-654. Pubmed ID: 19780792
Publication ID: Patient 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 - 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? | Rett syndrome - atypical | Female | 23828526 Ermel et al (2013) | cp421 |
c.-253-?_*1085del | p.Met1? | Not Rett syndrome | Female | 25657822 Fehr S et al (2015) | cp543 |
Displaying a total number of 5 proband entries.