Mitochondrial disease
Gene: FOXRED1

FOXRED1 (FAD dependent oxidoreductase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000110074
EnsemblGeneIds (GRCh37): ENSG00000110074
OMIM: 613622, Gene2Phenotype
FOXRED1 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

8 unrelated probands reported.
Created: 5 Jan 2022, 12:21 a.m. | Last Modified: 5 Jan 2022, 12:21 a.m.

Panel Version: 0.681

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 19 MIM#618241

Publications

33613441

Created: 5 Jan 2022, 12:21 a.m.
Last Modified: 5 Jan 2022, 12:21 a.m.
Panel version: 0.681

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

8 unrelated probands (including 1 pair of siblings) reported thus far.
neonatal onset in 5.
Created: 13 Dec 2021, 3:14 a.m. | Last Modified: 13 Dec 2021, 3:14 a.m.

Panel Version: 0.10206

Phenotypes
Mitochondrial complex I deficiency, nuclear type 19 MIM#618241

Publications

33613441

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Dec 2021, 3:14 a.m.
Last Modified: 13 Dec 2021, 3:14 a.m.
Panel version: Imported from Mendeliome panel version 0.10206

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Mitochondrial complex I deficiency, nuclear type 19 MIM#618241

OMIM

613622

Clinvar variants

Variants in FOXRED1

Penetrance

None

Publications

33613441

Panels with this gene