| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrophic cardiomyopathy v0.183 | UQCRFS1 | Bryony Thompson Classified gene: UQCRFS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.183 | UQCRFS1 | Bryony Thompson Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.183 | UQCRFS1 | Bryony Thompson Gene: uqcrfs1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.4 | UQCRFS1 | Zornitza Stark Marked gene: UQCRFS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.4 | UQCRFS1 | Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.4 | UQCRFS1 | Zornitza Stark Classified gene: UQCRFS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.4 | UQCRFS1 | Zornitza Stark Gene: uqcrfs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.3 | UQCRFS1 |
Zornitza Stark 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 Added comment: Two unrelated families reported plus functional evidence. Sources: Literature |
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