SDHD germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-SDHD-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | SDHD germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-BCELL-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "SDHD", "gene_hugo_id": "HGNC:10684", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
SDHD germline — drives hereditary paraganglioma-pheochromocytoma syndrome (PGL1). Paternal-allele-only penetrance (maternal imprinting): disease essentially exclusive to carriers inheriting the variant from father. Predominantly multifocal head-and-neck paragangliomas; lower malignant rate than SDHB. Annual biochemistry + whole-body MRI surveillance from age 5-10 in paternally-inheriting carriers per NCCN. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.