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Mendeliome

Gene: PRKAG3

Amber List (moderate evidence)

PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3)
EnsemblGeneIds (GRCh38): ENSG00000115592
EnsemblGeneIds (GRCh37): ENSG00000115592
OMIM: 604976, Gene2Phenotype
PRKAG3 is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated families reported with increased muscle glycogen content with the same missense (R225W). In vitro functional assays demonstrated a gain of function. The variant is homologous to the naturally occurring R200Q substitution in Hampshire pigs, which also have excess glycogen content.
Created: 29 May 2020, 4:19 a.m. | Last Modified: 29 May 2020, 4:19 a.m.
Panel Version: 0.2926

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
increased glycogen content in skeletal muscle

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • increased glycogen content in skeletal muscle
OMIM
604976
Clinvar variants
Variants in PRKAG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2022, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: PRKAG3 were changed from increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030 to increased glycogen content in skeletal muscle

20 May 2022, Gel status: 2

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: PRKAG3 were changed from to increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030

20 May 2022, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: prkag3 has been classified as Amber List (Moderate Evidence).

20 May 2022, Gel status: 2

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: PRKAG3 were set to

20 May 2022, Gel status: 2

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PRKAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: prkag3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRKAG3 was added gene: PRKAG3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRKAG3 was set to Unknown