FOXG1 Proband Entry

   CSV explantation textc

Entry ID: fp30

Systematic name: c.256dupC

Protein name: p.Gln86Profs*35

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Female

Phenotype: Rett syndrome - sporadic

Other mutation: NK

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5 negative

Source of DNA: blood

Familial testing: de novo

Control screening: No


Source: Allou, L., Lambert, L., Amsallem, D., Bieth, E., Edery, P., Destree, A., Rivier, F., Amor, D., Thompson, E., Nicholl, J., Harbord, M., Nemos, C., Saunier, A., Moustaine, A., Vigouroux, A., Jonveaux, P., Philippe, C. (2012) 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet 20:1216-1223. Pubmed ID: 22739344

Publication ID: patient 1


Entry last updated on: 2018-06-26 10:38:56

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.256dupC p.Gln86Profs*35 Rett syndrome - sporadic Male 20734096 Le Guen, T. et al (2011) fp13
c.256dupC p.Gln86Profs*35 Rett syndrome - sporadic Female 22129046 Takahashi, S. et al (2012) fp28
c.256dupC p.Gln86Profs*35 Rett syndrome - sporadic Female 22968132 Ellaway, C.J. et al (2012) fp33

Displaying a total number of 3 proband entries.