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  3. UQCRFS1
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Cardiomyopathy_Paediatric

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Functional evidence in addition to the two families reported, upgrade to Green.
Created: 15 Apr 2021, 10:42 a.m. | Last Modified: 15 Apr 2021, 10:42 a.m.
Panel Version: 0.73

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775

Created: 15 Apr 2021, 10:40 a.m.
Last Modified: 15 Apr 2021, 10:40 a.m.
Panel version: 0.73

John Christodoulou (Murdoch Children's Research Institute)

I don't know

I'd label this one as amber: two unrelated cases

see OMIM 618775
Sources: Literature
Created: 15 Apr 2021, 5:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cardiomyopathy; thrombocytopenia; hypotonia

Publications

Created: 15 Apr 2021, 5:41 a.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775
  • cardiomyopathy
  • thrombocytopenia
  • hypotonia
OMIM
191327
Clinvar variants
Variants in UQCRFS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Apr 2021, 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).

15 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).

15 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UQCRFS1 were changed from cardiomyopathy; thrombocytopenia; hypotonia to Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775; cardiomyopathy; thrombocytopenia; hypotonia

15 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).

15 Apr 2021, Gel status: 0

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

John Christodoulou (Murdoch Children's Research Institute)

gene: UQCRFS1 was added gene: UQCRFS1 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to PMID: 31883641 Phenotypes for gene: UQCRFS1 were set to cardiomyopathy; thrombocytopenia; hypotonia Penetrance for gene: UQCRFS1 were set to Complete Review for gene: UQCRFS1 was set to AMBER