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: 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 | 22739344 Allou, L. et al (2012) | fp30 |
Displaying a total number of 3 proband entries.