FOXG1 Proband Entry



   CSV explantation textc


Entry ID: fp25

Systematic name: c.460dupG

Protein name: p.Glu154Glyfs*301

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, FOXG1

Source of DNA: not certain

Familial testing: de novo

Control screening: No

dbSNP ID:

Source: Van der Aa, N., Van den Bergh, M., Ponomarenko, N., Verstraete, L., Ceulemans, B., Storm, K. (2011) Analysis of FOXG1 is highly recommended in male and female patients with Rett syndrome. Molecular Syndromology 1:290-293. Pubmed ID: 22190898

Publication ID: Case 2

Comments:

Entry last updated on: 2015-12-02 01:18:46

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 19806373 Bahi-Buisson, N. et al (2010) fp6
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Female 21441262 Kortum, F. et al (2011) fp19
c.460dupG p.Glu154Glyfs*301 Rett syndrome - sporadic Male 21441262 Kortum, F. et al (2011) fp21
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Female 24836831 Seltzer, L.E. et al (2014) fp37
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - sporadic Male 24836831 Seltzer, L.E. et al (2014) fp38
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp50
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Male 24836831 Seltzer, L.E. et al (2014) fp51
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp55
c.460dupG p.Glu154Glyfs*301 Not Rett syndrome - familial Female 24836831 Seltzer, L.E. et al (2014) fp56

Displaying a total number of 9 proband entries.