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Inborn errors of metabolism

Gene: FOXRED1

Green List (high evidence)

FOXRED1 (FAD dependent oxidoreductase domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000110074
EnsemblGeneIds (GRCh37): ENSG00000110074
OMIM: 613622, Gene2Phenotype
FOXRED1 is in 16 panels

1 review

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial Diseases
  • Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010
  • Isolated complex I deficiency
  • Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)
  • Mitochondrial Respiratory Chain Complex I Deficiency
OMIM
613622
Clinvar variants
Variants in FOXRED1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FOXRED1. Source London North GLH was added to FOXRED1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors); Isolated complex I deficiency for gene: FOXRED1 Publications for gene FOXRED1 were changed from to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: FOXRED1 was added gene: FOXRED1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXRED1 were set to Mitochondrial Diseases; Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency