| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrophic cardiomyopathy v1.25 | ADIPOR1 | Zornitza Stark Marked gene: ADIPOR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.25 | ADIPOR1 | Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.25 | ADIPOR1 | Zornitza Stark Classified gene: ADIPOR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.25 | ADIPOR1 | Zornitza Stark Gene: adipor1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.24 | ADIPOR1 |
Zornitza Stark gene: ADIPOR1 was added gene: ADIPOR1 was added to Hypertrophic cardiomyopathy. Sources: Literature Mode of inheritance for gene: ADIPOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADIPOR1 were set to 33523960 Phenotypes for gene: ADIPOR1 were set to Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related Review for gene: ADIPOR1 was set to AMBER Added comment: The study reports five individuals from four unrelated South‑Asian families carrying heterozygous missense variants (c.470T>A p.L157H, c.436G>A p.V146M, c.433T>A p.F145I) who present with HCM; three of the five also have diabetes mellitus. All variants are absent or ultra‑rare in public databases, three are de novo events, and functional assays in rat cardiomyocytes and a Cre‑V146M transgenic mouse model show hyperactivation of p38/mTOR and/or ERK pathways, cardiomyocyte hypertrophy, metabolic dysregulation and rescue by rapamycin. Sources: Literature |
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