CDKL5 Proband Search Results
cDNA name | Protein name | Pathogenicity class | Phenotype | Gender | Reference | Proband ID |
---|---|---|---|---|---|---|
c.64+2delT | p.? | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp77 |
c.99+1G>T | p.Ala23Asnfs*3 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp78 |
c.145+2T>C | p.? | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp79 |
c.229_232delGAAG | p.Glu77Hisfs*35 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp67 |
c.352C>T | p.Gln118* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp64 |
c.425T>A | p.Leu142* | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp65 |
c.555-19C>G | p.= | benign variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp81 |
c.555-19C>G | p.= | benign variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp82 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp83 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp84 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp85 |
c.555-19C>G | p.= | benign variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp86 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp87 |
c.555-19C>G | p.= | benign variant | Unaffected - unaffected family member | Female | 18790821 Bahi-Buisson et al (2008) | cp88 |
c.801_802delTA | p.Asn267Lysfs*5 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp68 |
c.867dupA | p.Gln290Thrfs*36 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp69 |
c.1311dupC | p.Ser438Glnfs*25 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp70 |
c.1892_1893dupTA | p.Gly632* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp71 |
c.2016delC | p.Ser673Leufs*111 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp73 |
c.2045_2046delAGins18 | p.Glu682Glyfs*12 | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp72 |
c.2152G>A | p.Val718Met | likely pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp80 |
c.2325_2326delGA | p.Lys776Alafs*24 | pathogenic variant | Not Rett syndrome - X-linked infantile spasm syndrome | Female | 18790821 Bahi-Buisson et al (2008) | cp74 |
c.2500C>T | p.Gln834* | pathogenic variant | Rett syndrome - atypical | Female | 18790821 Bahi-Buisson et al (2008) | cp66 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp75 |
c.2635_2636delCT | p.Leu879Glufs*30 | pathogenic variant | Not Rett syndrome - severe encephalopathy and refractory epilepsy | Female | 18790821 Bahi-Buisson et al (2008) | cp76 |
Displaying 25 entries