ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Sophie HespeAmber WaddellBabken AsatryanEmma OwensCourtney L ThaxtonMhy-Lanie AdduruKailyn AndersonEmily E BrownLily Hoffman-AndrewsElizabeth S JordanKatherine S JosephsMegan MayersStacey PetersFergus StaffordRichard Douglas BagnallLucas BronickiBert CallewaertC Anwar A ChahalCynthia A JamesOlga JarinovaAndrew P LandstromElizabeth M McNallyBrittney MurrayLaura Muiño MosqueraVictoria N ParikhNicolette ChunRoddy WalshBess WayburnJames Simon WareJodie InglesPublished in: medRxiv : the preprint server for health sciences (2024)
We report 29 genes with definitive, strong or moderate evidence of causation for HCM or isolated LVH, including sarcomere, sarcomere-associated and syndromic conditions.
Keyphrases
- hypertrophic cardiomyopathy
- cardiovascular disease
- genome wide identification
- genome wide
- left ventricular
- genome wide analysis
- intellectual disability
- copy number
- transcription factor
- high intensity
- dna methylation
- type diabetes
- locally advanced
- bioinformatics analysis
- cardiovascular risk factors
- squamous cell carcinoma
- cardiovascular events
- heart failure
- radiation therapy
- gene expression
- autism spectrum disorder