Case N40: Tunisia, Female, 56yo at onset, deceased

DiseaseAssertion: hypertrophic cardiomyopathy

CasePresentingHPOs: HP:0100749, HP:0002094 (chest pain, dyspnea)

CaseHPOFreeText: left ventricular septum (LVS) ≥15 mm, septum size = 20mm

FamilyInfo: Family history of sudden cardiac death

CasePreviousTesting: Full testing (MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1), Additional testing (FLNC, TNNC1), electrocardiogram, echocardiography

CaseGenotypingMethod: PCR, Next-generation sequencing, identified variants confirmed via Sanger Sequencing

Variant: NM_000257.3:c.2213G>A

CAID: CA389048899, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389048899

gnomAD: n/a