CDKL5 Proband Entry



Entry ID: cp86

Systematic name: c.555-19C>G

Protein name: p.=

Alternate name(s): intronic variation (IVS8-19C>G)

Mutation type: intronic variant

Domain: catalytic domain

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not Rett syndrome - X-linked infantile spasm syndrome

Other mutation:

X-inactivation results: Yes - random

Chromosomal abnormality: No

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: No

Familial X-inactivation:

Control screening: No

dbSNP ID: rs75057928

Source: Bahi-Buisson, N., Nectoux, J., Rosas-Vargas, H., Milh, M., Boddaert, N., Girard, B., Cances, C., Ville, D., Afenjar, A., Rio, R., Heron, D., N'Guyen Morel, M.A., Arzimanoglou, A., Philippe, C., Jonveaux, P., Chelly, J., Bienvenu, T. (2008) Key clinical features to identify girls with CDKL5 mutations. Brain 131:2647-2661. Pubmed ID: 18790821

Publication ID:

Comments:

Entry last updated on: 2014-03-13 06:06:39

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.555-19C>G p.= Not Rett syndrome - not certain Female 16611748 Archer et al (2006) cp52
c.555-19C>G p.= Not Rett syndrome - not certain Female 16611748 Archer et al (2006) cp53
c.555-19C>G p.= Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp81
c.555-19C>G p.= Rett syndrome - atypical Female 18790821 Bahi-Buisson et al (2008) cp82
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp83
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp84
c.555-19C>G p.= Not Rett syndrome - severe encephalopathy and refractory epilepsy Female 18790821 Bahi-Buisson et al (2008) cp85
c.555-19C>G p.= Not known - unaffected family member Female 18790821 Bahi-Buisson et al (2008) cp87
c.555-19C>G p.= Not known - unaffected family member Female 18790821 Bahi-Buisson et al (2008) cp88
c.555-19C>G p.= Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp101
c.555-19C>G p.= Not known - unaffected family member Female 19793311 Nemos et al (2009) cp103
c.555-19C>G p.= Not known Unknown 19241098 Russo et al (2009) cp125
c.555-19C>G p.= Not known Unknown 19241098 Russo et al (2009) cp126
c.555-19C>G p.= Not Rett syndrome - infantile intractable epilepsy Female 21775177 Intusoma et al (2011) cp218
c.555-19C>G p.= Rett syndrome - atypical Female Directly submitted cp474
c.555-19C>G p.= Not Rett syndrome - epileptic encephalopathy Female Directly submitted cp481
c.555-19C>G p.= Not Rett syndrome - severe mental retardation and early seizures Female Directly submitted cp484
c.555-19C>G p.= Not Rett syndrome - epileptic encephalopathy Female Directly submitted cp490
c.555-19C>G p.= Not Rett syndrome - not certain Female Directly submitted cp492

Displaying a total number of 19 proband entries.