Early onset dystonia
Gene: FOXG1EnsemblGeneIds (GRCh38): ENSG00000176165
EnsemblGeneIds (GRCh37): ENSG00000176165
OMIM: 164874, Gene2Phenotype
FOXG1 is in 10 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgrading the rating from red to green as there is enough evidence to support the gene-disease association. Also green on the childhood dystonia GMS panel (R57).Created: 23 Oct 2023, 4:04 p.m. | Last Modified: 23 Oct 2023, 4:04 p.m.
Panel Version: 1.140
Eldar Dedic (Independent Clinical Genetics Consultant)
Dzinovic, et al. (2021, PMID: 34399161) analyzed 45 pediatric complex dystonia cases. The whole-exome-sequencing revealed de novo heterozygous FOXG1 c.703C >T (p.Leu235Phe) variant in 3 years of age female case of European ethnicity. Parents were Sanger sequenced.
- Please note that FOXG1 c.703C >T (p.Leu235Phe) variant was absent from gnomAD v2.1.1 as of December 2021
Wong, et al. (2019, PMID: 31316448) analyzed 30 cases with encephalopathy and movement impairments. Whole-exome-sequencing revealed 3 variants (c.763 T>C (p.Trp255Arg); c.250delC (p.Gln86Argfs*106); c.256dupC (p.Gln86Aspfs*34)) in FOXG1 gene in 3 Han Chinese cases (between 2 and 17 years of age) from Taiwan who had dystonia, respectively (Table 1).
- Please note that FOXG1 c.250delC (p.Gln86Argfs*106) variant was filtered from gnomAD v2.1.1, while FOXG1 c.763 T>C (p.Trp255Arg) and FOXG1 c.256dupC (p.Gln86Aspfs*34) variants were absent from gnomAD v2.1.1 as of December 2021
Mencarelli, et al. (2010, PMID: 19578037) analyzed 107 cases of European origin (including 60 Rett syndrome (RTT), 43 encephalopathy, and 4 RTT-like patients). The FOXG1 c.643T>C (p.Phe215Leu) variant has been found de novo in one 8 years of age female RTT patient with dystonia (diagnosed at 2 years of age) of French origin.
- Please note that FOXG1 c.643T>C (p.Phe215Leu) variant was absent from gnomAD v2.1.1 as of December 2021Created: 7 Dec 2021, 8:19 a.m. | Last Modified: 7 Dec 2021, 8:20 a.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Rett Syndrome, congenital variant OMIM:613454
- OMIM
- 164874
- Clinvar variants
- Variants in FOXG1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Early onset or syndromic epilepsy
- DDG2P
- Monogenic hearing loss
- Intellectual disability
- Fetal anomalies
- Severe microcephaly
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FOXG1 were changed from Dystonia to Rett Syndrome, congenital variant OMIM:613454
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: FOXG1 were set to
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: foxg1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: foxg1 has been classified as Red List (Low Evidence).
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: FOXG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
Added New Source
GEL ()FOXG1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory