MAGEL2

MAGE family member L2
OMIM: 605283, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red MAGEL2 in Severe early-onset obesity Level 2: Endocrinology Version 5.21 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert list Emory Genetics Laboratory Phenotypes Congenital Obesity
Red MAGEL2 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources NHS GMS Expert Review Red Expert review Phenotypes Schaaf-Yang syndrome, OMIM:615547 Schaaf-Yang syndrome, MONDO:0014243
Green MAGEL2 in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources NHS GMS Expert Review Green Expert review Phenotypes Schaaf-Yang syndrome, OMIM:615547 Schaaf-Yang syndrome, MONDO:0014243
Green MAGEL2 in Arthrogryposis Level 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green Other Literature Phenotypes Schaaf-Yang syndrome, OMIM:615547 Prader-Willi-Like syndrome
Green MAGEL2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Schaaf-Yang syndrome ARTHROGRYPOSIS MULTIPLEX CONGENITA Schaaf-Yang syndrome, 615547 Tags watchlist
Green MAGEL2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Schaaf-Yang syndrome, OMIM:615547
Red MAGEL2 in Clefting Level 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Schaaf-Yang syndrome, OMIM:615547
Green MAGEL2 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes PRADER WILLI SYNDROME