This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
1 review
Emily Jones (North Bristol NHS Trust)
Limited cases and movement disorder is not the predominant feature.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- South West GLH
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 19, 618241
- OMIM
- 613622
- Clinvar variants
- Variants in FOXRED1
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Adult onset neurodegenerative disorder
- Early onset or syndromic epilepsy
- Mitochondrial disorder with complex I deficiency
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jul 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene FOXRED1 was changed from to Unknown Added phenotypes Mitochondrial complex I deficiency, nuclear type 19, 618241 for gene: FOXRED1
2 Apr 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to FOXRED1.
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FOXRED1 was added gene: FOXRED1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: FOXRED1 was set to