Curated summary · agent-written · kb/genes/curated/hgnc_30802.md

All 12 claims checked against the KB draft

PNPLA2 across dismech

PNPLA2 (patatin like domain 2, triacylglycerol lipase; adipose triglyceride lipase, ATGL) is named by 2 disorder entries: Neutral Lipid Storage Myopathy; and Primary Triglyceride Deposit Cardiomyovasculopathy.

Normal function

The ai-gene-review ingest layer does not yet carry a PNPLA2 review, so it returns 0 core-function terms. A full PNPLA2 review (triacylglycerol lipase activity on lipid droplets, triglyceride catabolic process) is being added upstream and will appear here once the ingest is refreshed.

Causative record

Neutral Lipid Storage Myopathy types PNPLA2 as causative with a germline variant origin, and ClinGen rates the pair definitive. The gene sits on the node PNPLA2/ATGL Deficiency, which the KB annotates with triglyceride catabolic process.

Second causative record

Primary Triglyceride Deposit Cardiomyovasculopathy names PNPLA2 on the same kind of node and also types it as causative with a germline variant origin. ClinGen's PNPLA2 classification is for neutral lipid storage myopathy, so no tier is recorded on this second entry.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

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
Neutral Lipid Storage Myopathy	causative germline CLINGEN: definitive	mechanism: PNPLA2/ATGL Deficiency
Primary Triglyceride Deposit Cardiomyovasculopathy	causative germline	mechanism: PNPLA2/ATGL Deficiency

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
neutral lipid storage myopathy MONDO:0012545	AR	Definitive 2022-07-21	Neutral Lipid Storage Myopathy causative