NPRL3

NPR3 like, GATOR1 complex subunit

2 disorders 1 untyped 1 causative 16p13.3 gene with protein product

HGNC:14124 Monarch NCBI Gene 8131 ENSG00000103148 UniProt Q12980 OMIM 600928

Previous symbols: C16orf35. Aliases: CGTHBA, RMD11, NPR3, MARE, HS-40.

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
Focal Cortical Dysplasia Type II	causative germline and somatic
Familial Focal Epilepsy With Variable Foci	untyped Causal GATOR1 loss-of-function variant	mechanism: GATOR1 Complex Loss and mTORC1 Disinhibition

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
focal epilepsy MONDO:0005384	AD	Definitive 2023-08-01	DEPDC5-Related Epilepsy not named

Mechanism modules · computed from kb/

mtorc1_hyperactivation via Familial Focal Epilepsy With Variable Foci named in the module itself

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