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MAGEL2 - MAGE family member L2

Synonym(s) : nM15
Previous symbols and names : MAGE-like 2, NDNL1, melanoma antigen family L2
Type : gene with protein product
Chromosomal location : 15q11.2
OMIM: 605283
HGNC: 6814
UniProtKB: Q9UJ55
Genatlas: MAGEL2
GenCC: MAGEL2
Ensembl: ENSG00000254585
IUPHAR-DB: -
Reactome: Q9UJ55
LOVD: MAGEL2

Diseases list

Disease-causing germline mutation(s) (loss of function) in MAGEL2-related Prader-Willi-like syndrome ORPHA:398069
Role in the phenotype of Prader-Willi syndrome due to imprinting mutation ORPHA:177910
Role in the phenotype of Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 ORPHA:98754
Role in the phenotype of Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 ORPHA:177901
Role in the phenotype of Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 ORPHA:177904

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (67)

Research activities on this gene

Specialised Social Services

Eurordis directory

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