GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
1 review
Emily Jones (North Bristol NHS Trust)
Listed under Complex dystonias on Hereditary Dystonia GeneReviews. Dystonia is a common feature of the syndrome (27029630) and also see sterotypic hand movements.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- South West GLH
- Phenotypes
-
- Rett Syndrome, congenital variant, 613454
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Early onset dystonia
- DDG2P
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Intellectual disability
- Severe microcephaly
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
History Filter Activity
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene FOXG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Rett Syndrome, congenital variant, 613454 for gene: FOXG1
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to FOXG1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FOXG1 was added gene: FOXG1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: FOXG1 was set to