Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: MGA

Amber List (moderate evidence)

MGA (MGA, MAX dimerization protein)
EnsemblGeneIds (GRCh38): ENSG00000174197
EnsemblGeneIds (GRCh37): ENSG00000174197
OMIM: 616061, Gene2Phenotype
MGA is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Association with POF: LoF variants enriched in a large POF cohort. Familial testing in a small number of families performed. Mouse model supportive. Also borderline Amber/Green. Amber rating until phenotypes and mechanisms of disease for these two associations clarified.
Sources: Literature
Created: 20 Jan 2025, 2:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure 26, MIM# 621065

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Premature ovarian failure 26, MIM# 621065
OMIM
616061
Clinvar variants
Variants in MGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mga has been classified as Amber List (Moderate Evidence).

20 Jan 2025, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mga has been classified as Amber List (Moderate Evidence).

20 Jan 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MGA was added gene: MGA was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MGA were set to 39545409 Phenotypes for gene: MGA were set to Premature ovarian failure 26, MIM# 621065 Review for gene: MGA was set to AMBER