Possible mitochondrial disorder - nuclear genes
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
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 19, 618241
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 19, 618241
- OMIM
- 613622
- Clinvar variants
- Variants in FOXRED1
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Hypertrophic cardiomyopathy
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FOXRED1 was added gene: FOXRED1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, nuclear type 19, 618241