FOXG1 Proband Entry



Entry ID: fp33

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: N

Chromosomal abnormality: No

Method of testing: direct, MECP2, CDKL5 negative, all FOXG1

Source of DNA: blood

Familial testing: de novo

Control screening: No

dbSNP ID:

Source: Ellaway, C.J., Ho, G., Bettella, E., Knapman, A., Collines, F., Hackett, A., McKenzie, F., Darmanian, A., Peters, G.B., Fagan, K., Christodoulou, J. (2012) 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics 21:522-527. Pubmed ID: 22968132

Publication ID:

Comments:

Entry last updated on: 2015-12-02 01:19:28

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 22739344 Allou, L. et al (2012) fp30

Displaying a total number of 3 proband entries.