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Dystonia - complex

Gene: FOXG1

Green List (high evidence)
FOXG1 (forkhead box G1)
EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

See review of 28 individuals with FOXG1 mutations presenting with a wide variety of movement disorders, with dystonia, choreoathetosis, and orolingual/facial dyskinesias most commonly present. Most had a mixed movement disorder phenotype. In contrast to the phenotype classically described with FOXG1 mutations, 4 individuals with missense mutations had a milder phenotype, with independent ambulation, spoken language, and normocephaly. Hyperkinetic involuntary movements were a major clinical feature in these patients.
Created: 5 Sep 2020, 8:04 a.m. | Last Modified: 5 Sep 2020, 8:04 a.m.
Panel Version: 0.87

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome, congenital variant, MIM# 613454

Publications

Created: 5 Sep 2020, 8:04 a.m.
Last Modified: 5 Sep 2020, 8:04 a.m.
Panel version: 0.87

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Rett syndrome, congenital variant
  • Dystonia
OMIM
164874
Clinvar variants
Variants in FOXG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxg1 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXG1 were set to

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FOXG1 was added gene: FOXG1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant; Dystonia