PLN

phospholamban

4 disorders 3 causative 1 unknown 6q22.31 gene with protein product

HGNC:9080 Monarch NCBI Gene 5350 ENSG00000198523 UniProt P26678 OMIM 172405

Previous symbols: PLB. Aliases: CMD1P.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
arrhythmogenic right ventricular cardiomyopathy	unknown germline
Dilated Cardiomyopathy 1P	causative germline
Hypertrophic Cardiomyopathy	causative germline	mechanism: Altered Calcium Handling
Hypertrophic Cardiomyopathy 18	causative germline loss of functionunknown	mechanism: PLN L39X Truncating Variant; PLN Promoter Variant Altering Phospholamban Expression

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
intrinsic cardiomyopathy MONDO:0000591	AD	Definitive 2021-02-12	no dismech entry
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Moderate 2020-12-17	arrhythmogenic right ventricular cardiomyopathy unknown

Mechanism modules · computed from kb/

cardiac_camp_pka_calcium_handling named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.