CDKL5 Proband Entry



Entry ID: cp189

Systematic name: c.2377-31T>C

Protein name: p.=

Alternate name(s): intronic variation

Mutation type: intronic variant

Domain: regulatory C-terminal

Pathogenicity class: benign variant

Gender: Female

Phenotype: Not known - unaffected family member

Other mutation:

X-inactivation results: No

Chromosomal abnormality: Not known

Method of testing: direct, exons 2-21

Source of DNA: blood

Familial testing: found in daughter with epileptic encephalopathy

Familial X-inactivation:

Control screening: not found in 200/200 chromosomes

dbSNP ID: rs267608658

Source: White, R., Ho, G., Schmidt, S., Scheffer, I.E., Fischer, A., Yendle, S.C., Bienvenu, T., Nectoux, J., Ellaway, C.J., Darmanian, A., Tong, X., Cloosterman, D., Bennetts, B., Kalra, V., Fullston, T., Gecz, J., Cox, T.C., Christodoulou, J. (2010) Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Res Hum Genet 13:168-178. Pubmed ID: 20397747

Publication ID:

Comments:

Entry last updated on: 2014-05-09 06:14:58

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2377-31T>C p.= Not Rett syndrome - epileptic encephalopathy Female 20397747 White et al (2010) cp188
c.2377-31T>C p.= Not Rett syndrome - epileptic encephalopathy Unknown 23064044 Raymond et al (2013) cp373
c.2377-31T>C p.= Not known - unaffected family member Female 23064044 Raymond et al (2013) cp374

Displaying a total number of 3 proband entries.