Early onset or syndromic epilepsy
Gene: FOXG1
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD Rett syndrome. Seizures are a feature, many reported mutationsCreated: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rett syndrome, congenital variant,613454
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Checked the imprinted gene list, and gene2phenotype.Created: 17 Dec 2015, 3:46 p.m.
Publications for gene: FOXG1 were set to PMID: 21441262
Phenotypes for gene: FOXG1 were changed from Rett syndrome, congenital variant to Rett syndrome, congenital variantRett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Source Wessex and West Midlands GLH was added to FOXG1.
Source NHS GMS was added to FOXG1.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to FOXG1. Panel: Genetic Epilepsy Syndromes
FOXG1 was added to Genetic Epilepsy Syndromes panel. Sources: UKGTN,Expert Review Green,Expert
FOXG1 was created by Sarah Leigh