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  3. UQCRFS1
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Mitochondrial disease

Gene: UQCRFS1

Green List (high evidence)
UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)
EnsemblGeneIds (GRCh38): ENSG00000169021
EnsemblGeneIds (GRCh37): ENSG00000169021
OMIM: 191327, Gene2Phenotype
UQCRFS1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families reported plus functional evidence.
Sources: Literature
Created: 2 Jan 2020, 7:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis

Publications

Created: 2 Jan 2020, 7:53 a.m.

Panel version: 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial Complex III deficiency
  • lactic acidosis
  • fetal bradycardia
  • hypertrophic cardiomyopathy
  • alopecia totalis
OMIM
191327
Clinvar variants
Variants in UQCRFS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrfs1 has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrfs1 has been classified as Green List (High Evidence).

2 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UQCRFS1 was added gene: UQCRFS1 was added to Mitochondrial_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis Review for gene: UQCRFS1 was set to GREEN