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| Hypertrophic cardiomyopathy_HCM v0.181 | C1QBP | Bryony Thompson Classified gene: C1QBP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.181 | C1QBP | Bryony Thompson Added comment: Comment on list classification: Paediatric onset condition. Has been moved to the paediatric cardiomyopathy panel. Not one of the 29 genes the ClinGen HCVD GCEP recommends for HCM testing | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.181 | C1QBP | Bryony Thompson Gene: c1qbp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.28 | C1QBP | Ivan Macciocca reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:28942965; Phenotypes: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33, hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.2 | C1QBP | Zornitza Stark Marked gene: C1QBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.2 | C1QBP | Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.2 | C1QBP | Zornitza Stark Classified gene: C1QBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.2 | C1QBP | Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.1 | C1QBP |
Zornitza Stark gene: C1QBP was added gene: C1QBP was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert list Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713 Review for gene: C1QBP was set to GREEN Added comment: Four unrelated families reported; hypertrophic cardiomyopathy is a feature of the condition. Sources: Expert list |
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