Hypertrophic cardiomyopathy_HCM
Gene: UQCRFS1EnsemblGeneIds (GRCh38): ENSG00000169021
EnsemblGeneIds (GRCh37): ENSG00000169021
OMIM: 191327, Gene2Phenotype
UQCRFS1 is in 5 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Paediatric onset condition. This gene is on the paediatric cardiomyopathy panel. Not one of the 29 genes recommended for HCM testing by the ClinGen HCVD GCEP.Created: 22 Aug 2024, 8:27 a.m. | Last Modified: 22 Aug 2024, 8:27 a.m.
Panel Version: 0.183
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two unrelated families reported plus functional evidence.
Sources: LiteratureCreated: 2 Jan 2020, 9:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Complex III deficiency; lactic acidosis; fetal bradycardia; hypertrophic cardiomyopathy; alopecia totalis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: uqcrfs1 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: uqcrfs1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: uqcrfs1 has been classified as Green List (High Evidence).
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 Hypertrophic cardiomyopathy_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