FOXG1 Proband Entry
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: 2018-06-26 10:38:56
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.