MAGEL2

MAGE family member L2

2 disorders 1 untyped 1 causative 15q11.2 gene with protein product

HGNC:6814 Monarch NCBI Gene 54551 ENSG00000254585 UniProt Q9UJ55 OMIM 605283

Previous symbols: NDNL1. Aliases: nM15.

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
Schaaf-Yang Syndrome	causative	mechanism: MAGEL2 Truncating Variant on the Expressed Paternal Allele
Prader-Willi Syndrome	untyped Causative	subtype: Type I Deletion; Type II Deletion

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
Schaaf-Yang syndrome MONDO:0014243	AD	Definitive 2021-06-01	Schaaf-Yang Syndrome causative

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