Adult onset dystonia, chorea or related movement disorder
Gene: FOXRED1
FOXRED1 (FAD dependent oxidoreductase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000110074
EnsemblGeneIds (GRCh37): ENSG00000110074
OMIM: 613622, Gene2Phenotype
FOXRED1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000110074
EnsemblGeneIds (GRCh37): ENSG00000110074
OMIM: 613622, Gene2Phenotype
FOXRED1 is in 15 panels
2 reviews
Louise Daugherty (Genomics England Curator)
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:19 p.m.
This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain REDCreated: 19 Jun 2019, 4:14 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Limited cases and movement disorder is not the predominant feature.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
Mitochondrial complex I deficiency, nuclear type 19, 618241
Details
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 19, 618241
- Dystonia
- OMIM
- 613622
- Clinvar variants
- Variants in FOXRED1
- Penetrance
- None
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
23 Apr 2019, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to FOXRED1.
23 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to FOXRED1.
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FOXRED1 was added gene: FOXRED1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: FOXRED1 was set to Phenotypes for gene: FOXRED1 were set to Dystonia