Early onset or syndromic epilepsy
Gene: FOXRED1EnsemblGeneIds (GRCh38): ENSG00000110074
EnsemblGeneIds (GRCh37): ENSG00000110074
OMIM: 613622, Gene2Phenotype
FOXRED1 is in 15 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Rebecca Foulger (Genomics England curator)
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Tracy Lester (Genetics laboratory, Oxford UK)
Mitochondrial disorders can be associated with seizures, but the evidence is not specifically implicated, there are few reports of disease-causing variants in the literature. There is a single case report PMID 20818383 of a complex I/Leigh syndrome (patient DT22) who developed seizures age 10 (supplement 1, clinical information).Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency nuclear type 19, 618241
Publications
Sarah Leigh (Genomics England Curator)
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 23 Feb 2023, 5:53 p.m. | Last Modified: 23 Feb 2023, 5:53 p.m.
Panel Version: 3.79
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. At least eleven variants have been reported in seven unrelated cases of Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241 (20858599;20818383;27215383;31434271;30723688;33613441). Seizures were evident in six of these cases.Created: 23 Feb 2023, 5:52 p.m. | Last Modified: 23 Feb 2023, 5:52 p.m.
Panel Version: 3.78
Comment when marking as ready: Based on reviewers' comments.Created: 11 Dec 2018, 1:20 p.m.
Zornitza Stark (Australian Genomics)
A couple more cases reported in the literature in 2019 bringing the total to 6, including another one with seizures are part of the phenotype (31434271).Created: 22 Jan 2020, 10:34 a.m. | Last Modified: 22 Jan 2020, 10:34 a.m.
Panel Version: 2.0
Seizures are part of the phenotype but only two reported families.Created: 14 Aug 2018, 12:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241
- mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624
- OMIM
- 613622
- Clinvar variants
- Variants in FOXRED1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex I deficiency
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_23_promote_green was removed from gene: FOXRED1.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to FOXRED1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_23_promote_green tag was added to gene: FOXRED1.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FOXRED1 were set to 20858599; 20818383; 27215383; 31434271; 30723688
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FOXRED1 were set to 20858599; 20818383; 27215383; 31434271
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: FOXRED1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FOXRED1 were set to 20858599, 20818383; 27215383; 31434271
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19, OMIM:618241; mitochondrial complex 1 deficiency, nuclear type 19, MONDO:0032624
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FOXRED1 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to FOXRED1.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to FOXRED1.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Zornitza Stark: Seizures are part of the pheno
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Expert Review Amber was added to FOXRED1. Panel: Genetic Epilepsy Syndromes
Added New Source
Sarah Leigh (Genomics England Curator)FOXRED1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)FOXRED1 was created by Sarah Leigh