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Intellectual disability syndromic and non-syndromic

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

Note LoF variants now also associated with POF, supportive mouse model. Downgrade to Amber until further delineation of phenotypes and mechanisms.
Created: 20 Jan 2025, 2:29 a.m. | Last Modified: 20 Jan 2025, 2:29 a.m.
Panel Version: 1.49
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.
Sources: Literature
Created: 8 Dec 2024, 12:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic disease, MONDO:0002254, MGA-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MGA-related
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).

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mga has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mga has been classified as Green List (High Evidence).

8 Dec 2024, 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 Intellectual disability syndromic and non-syndromic. 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 Phenotypes for gene: MGA were set to Syndromic disease, MONDO:0002254, MGA-related Review for gene: MGA was set to GREEN