Hypertrophic cardiomyopathy
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
Rebecca Whittington (South West GLH)
Mitochondrial complex I deficiency, nuclear type 19 (618241)Created: 25 Mar 2019, 4:30 p.m.
Mitochondrial complex I deficency has HCM.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 613622
- Clinvar variants
- Variants in FOXRED1
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Intellectual disability
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- 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
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to FOXRED1. Mode of inheritance for gene FOXRED1 was changed from to Unknown
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FOXRED1 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list