FOXG1 Proband Entry
Entry ID: fp23
Systematic name: c.263_278del16
Protein name: p.Arg88Profs*99
Alternate name(s):
Mutation type: frameshift insertion and/or deletion
Domain: Inter domain region
Pathogenicity class: pathogenic variant
Gender: Male
Phenotype: Rett syndrome - sporadic
Other mutation: NK
Chromosomal abnormality: Not known
Method of testing: direct, MECP2 negative
Source of DNA: blood
Familial testing: de novo
Control screening:
dbSNP ID:
Source: Kortum, F., Das, S., Flindt, M., Morris-Rosendahl, J., Stefanova, I., Goldstein, A., Horn, D., Klopocki, E., Kluger, G., Martin, P., Rauch, A., Roumer, A., Saitta, S., Walsh, L.E., Wieczorek, D., Uyanik, G., Kutsche, K., Dobyns, W.B. (2011) The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. Journal of Medical Genetics 48:396-406. Pubmed ID: 21441262
Publication ID: 10
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.263_278del16 | p.Arg88Profs*99 | Not known | Male | Directly submitted | fp83 |
Displaying a total number of 1 proband entries.