Adult onset neurodegenerative disorder
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset in the first months of lifeCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rett syndrome, congenital variant, 613454
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Dystonia
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- None
- Panels with this gene
-
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Early onset or syndromic epilepsy
- Monogenic hearing loss
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FOXG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to FOXG1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FOXG1 was added gene: FOXG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: FOXG1 was set to Unknown Phenotypes for gene: FOXG1 were set to Dystonia