Childhood onset dystonia, chorea or related movement disorder

Gene: FOXG1

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.

Panel Version: 1.217

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.

Panel Version: 1.212

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. All of the patients with FOXG1 variants reported in PMID 27029630 abnormal involuntary movements, including chorea/athetosis in 22/25 (88%) cases.

Created: 3 Jun 2021, 12:11 p.m. | Last Modified: 3 Jun 2021, 12:11 p.m.

Panel Version: 1.122

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 3 Jun 2021, 12:03 p.m. | Last Modified: 3 Jun 2021, 12:03 p.m.

Panel Version: 1.121

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, 8:03 a.m. | Last Modified: 5 Sep 2020, 8:03 a.m.

Panel Version: 1.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Rett syndrome, congenital variant, MIM# 613454

Publications

• 27029630

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust.

Created: 6 Dec 2019, 5:04 p.m. | Last Modified: 6 Dec 2019, 5:04 p.m.

Panel Version: 0.12

I don't know

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