Early onset or syndromic epilepsy
Gene: FOXRED1
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
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
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
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.
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
Tag Q1_23_promote_green was removed from gene: FOXRED1.
Source Expert Review Green was added to FOXRED1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: FOXRED1.
Publications for gene: FOXRED1 were set to 20858599; 20818383; 27215383; 31434271; 30723688
Publications for gene: FOXRED1 were set to 20858599; 20818383; 27215383; 31434271
Mode of inheritance for gene: FOXRED1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FOXRED1 were set to 20858599, 20818383; 27215383; 31434271
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
Publications for gene: FOXRED1 were set to
Source Wessex and West Midlands GLH was added to FOXRED1.
Source NHS GMS was added to FOXRED1.
Zornitza Stark: Seizures are part of the pheno
Gene: foxred1 has been classified as Amber List (Moderate Evidence).
Expert Review Amber was added to FOXRED1. Panel: Genetic Epilepsy Syndromes
FOXRED1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
FOXRED1 was created by Sarah Leigh