FOXG1 Proband Entry
Entry ID: fp30
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: NK
Chromosomal abnormality: No
Method of testing: direct, MECP2, CDKL5 negative
Source of DNA: blood
Familial testing: de novo
Control screening: No
dbSNP ID:
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 1
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 | 22968132 Ellaway, C.J. et al (2012) | fp33 |
Displaying a total number of 3 proband entries.