Childhood onset dystonia, chorea or related movement disorder
Gene: FOXG1
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
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
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
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
Publications for gene: FOXG1 were set to 21441262; 19564653; 19578037; 27029630
Tag Q2_21_rating was removed from gene: FOXG1.
Source Expert Review Green was added to FOXG1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: FOXG1.
Publications for gene: FOXG1 were set to 27029630
Gene: foxg1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FOXG1 were changed from Rett Syndrome, congenital variant, 613454 to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
Publications for gene: FOXG1 were set to
Gene: foxg1 has been classified as Amber List (Moderate Evidence).
gene: FOXG1 was added gene: FOXG1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH 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, 613454