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