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Mendeliome

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 syndromic disease: Three individuals with de novo LoF variants reported in individuals with ID and congenital anomalies. Zebrafish model supports role of this transcription factor in organogenesis. Note there are previous, less clear reports of association with NDD/CHD. Gene is constrained for LoF variants in gnomad v4; however, note there are ~30 individuals with LoF variants present. Borderline Green/Amber.

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, 2:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, MGA-related; Premature ovarian failure 26, MIM# 621065

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MGA-related
  • 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 Mendeliome. Sources: Literature Mode of inheritance for gene: MGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MGA were set to 39600096; 20044811; 39545409 Phenotypes for gene: MGA were set to Syndromic disease, MONDO:0002254, MGA-related; Premature ovarian failure 26, MIM# 621065 Review for gene: MGA was set to AMBER