Category: Associated Conditions

Addressing Familial Hypercholesterolemia Online Learning Series

A free online learning series developed by the Midwest Genetic Network Region 4 and Family Heart Foundation. Join three virtual learning collaborative presentation sessions August-October 2023. The sessions will provide an overview of Familial Hypercholesterolemia (FH) and discuss strategies for screening and managing FH. The goal of the learning series is to increase the number …

Malignant Hyperthermia Susceptibility

PMID Gene Reviews Entry: 20301325; Genes: RYR1, CACNA1S; Inheritance: AD; Typical Age at Onset: Child/Adult  

Wilson Disease

PMID Gene Reviews Entry: 20301685; Genes: ATP7B; Inheritance: AR (recommend searching only for individuals with biallelic mutations); Typical Age at Onset: Child  

Hypertrophic cardiomyopathy, dilated cardiomyopathy

PMID Gene Reviews Entry: 20301725; Genes: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA; Inheritance: MYBPC3 & MYL2 – AD, GLA – XL; Typical Age at Onset: Child/Adult  

Ehlers-Danlos syndrome, vascular type

PMID Gene Reviews Entry: 20301667; Genes: COL3A1; Inheritance: AD; Typical Age at Onset: Child/Adult  

Hereditary breast and ovarian cancer

PMID Gene Reviews Entry: 20301425; Genes: BRCA1, BRCA2; Inheritance: AD; Typical Age at Onset: Adult;