Epileptic encephalopathy
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
5 reviews
Amy McTague (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
- Kortum et al (2011) J Med Genet 48: 396-406
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
- Kortum et al (2011) J Med Genet 48: 396-406
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
- Kortum et al (2011) J Med Genet 48: 396-406
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
- Kortum et al (2011) J Med Genet 48: 396-406
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Checked the imprinted gene list, and gene2phenotype.Created: 17 Dec 2015, 3:46 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Rett syndrome, congenital variant
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- Complete
- Publications
-
- PMID: 21441262
- Panels with this gene
-
- Monogenic hearing loss
- Early onset dystonia
- Intellectual disability
- Early onset or syndromic epilepsy
- Adult onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FOXG1 were set to Rett syndrome, congenital variant
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FOXG1 were set to PMID: 21441262
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FOXG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)FOXG1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Upload gene information
Ellen McDonagh (Genomics England Curator)FOXG1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FOXG1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)FOXG1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)FOXG1 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert