CDKL5 Proband Entry



Entry ID: cp4

Systematic name: c.2047-1G>A

Protein name: p.Gly683Valfs*101

Alternate name(s): p.G683fs (r.2047delG)

Mutation type: splicing variant

Domain: not specified

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - atypical

Other mutation:

X-inactivation results: Yes - 85:15

Chromosomal abnormality: Not known

Method of testing: direct, exons 1-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: not found in 236/236 chromosomes

dbSNP ID: rs267608650

Source: Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L.D., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P.L., Watson, C., Lahooti, H., Ellaway, C.J., Bennetts, B., Leonard, H., Gecz, J. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet 75:1079-1093. Pubmed ID: 15492925

Publication ID: Family 2, II:1

Comments:

Entry last updated on: 2014-03-13 06:02:43

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