FOXG1 Proband Entry

   CSV explantation textc

Entry ID: fp31

Systematic name: c.256delC

Protein name: p.Gln86Argfs*106

Alternate name(s):

Mutation type: frameshift insertion and/or deletion

Domain: Inter domain region

Pathogenicity class: pathogenic variant

Gender: Male

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 2


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

Similar entries in the proband database

There are no other entries in the database with a similar genotype.