INHERITED CARDIOMETABOLICS / FIRST RELEASE 0.11
We separate established monogenic conditions from wellness-risk claims. Check which parts of a report are needed for a discussion with cardiology, endocrinology and medical-genetics teams—without diagnosis, risk calculation or treatment selection.
FH, cardiomyopathies, arrhythmias and monogenic diabetes
relationship validity · variant · phenotype
treatments, doses, surveillance schedules or relative testing
CLINICAL BOUNDARY
First: is this exact gene–condition relationship valid? Second: is the specific variant truly pathogenic or likely pathogenic for the established mechanism? Third: is it concordant with the observed phenotype and family structure? A gene name alone is insufficient.
International professional documents and ClinGen retain their own status. Russian clinical guidelines and organisational pathways are not yet imported: selecting Russia stops the automated output and requires manual verification of the current national version.
You select general categories only. They are matched in browser memory against a local editorial map and are not placed in the URL, cookies, storage, analytics, the controller’s server or an external API. Do not enter a variant, diagnosis, ECG findings, lipid or glucose values, family history or report text.
The navigator can show the scope of an expert-curated relationship, required report checks and questions for a specialist team. It does not calculate risk, prescribe surveillance, select a medicine or state that a person is affected or unaffected.
01 / FIRST LAYER
LDLR · APOB · PCSK9
MYH7 · MYBPC3 · TTN
KCNQ1 · KCNH2 · SCN5A · RYR2 · CASQ2
GCK · HNF1A · HNF4A · KCNJ11 · ABCC8 · INS
02 / STOP RULES
03 / HOW TO READ A REPORT
One gene can have different mechanisms and phenotypes. Validity cannot be transferred from one condition to another.
Transcript, HGVS, mechanism and expert classification matter more than a marketing label saying a ‘disease gene was found’.
Panels, exomes and genomes differ in detecting CNVs, repetitive regions, mitochondrial and imprinting mechanisms. A negative result always depends on the assay.
ECG, imaging, lipids, age at onset, biochemistry and segregation are not sent to the site, but must be reviewed by the clinical team.
04 / SOURCES
Editorial snapshot reviewed 30 August 2026. ESC recommendation text is not encoded into the automated logic or reproduced as personalised rules: the page uses it only as external professional context. A Russian layer requires its own version and clinical review.
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