Adult onset dystonia, chorea or related movement 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 from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
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. Appears to present in childhoodCreated: 23 Apr 2019, 12:14 p.m.
Phenotypes
Rett Syndrome, congenital variant, 613454
Publications
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- South West GLH
- Phenotypes
-
- Rett Syndrome, congenital variant, 613454
- Dystonia
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Early onset dystonia
- DDG2P
- Intellectual disability
- Monogenic hearing loss
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes Rett Syndrome, congenital variant, 613454 for gene: FOXG1 Publications for gene FOXG1 were changed from to 27029630; 29086067
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FOXG1.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to FOXG1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FOXG1 was added gene: FOXG1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: FOXG1 was set to Phenotypes for gene: FOXG1 were set to Dystonia