Rhabdomyolysis and Metabolic Myopathy

Gene: AGK

Green List (high evidence)

AGK (acylglycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 10 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Mitochondrial disorder with typical features such as hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis

PMID: 22284826
Predicted LoF variants in 10 individuals from unrelated families
> 5 individuals with confirmed combined respiratory-chain-complex deficiency in muscle tissue as well as lactic acidosis.
Sources: Other
Created: 9 May 2023, 5:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers Syndrome (MIM#212350; MONDO:0008922)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Myopathy as part of metabolic condition.
Created: 10 Jun 2020, 8:52 p.m. | Last Modified: 10 Jun 2020, 8:52 p.m.
Panel Version: 0.145

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM entry for Senger syndrome includes mitochondrial complex deficiencies, lipid storage myopathy and muscle weakness.

PMID: 22284826 - reports 12 patients (9 unrelated) with splice variants and PTCs. All report age of onset of <3.5 years old, majority were in the first 4 months of life. Patients had cardiomypathy, mitochondrial defects, exercise intolerance and lactic acidosis.
Cataracts reported as an additional feature in all patients.
Created: 10 Jun 2020, 1:09 a.m. | Last Modified: 10 Jun 2020, 1:09 a.m.
Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers syndrome 212350

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Sengers Syndrome (MIM#212350
  • MONDO:0008922)
OMIM
610345
Clinvar variants
Variants in AGK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: AGK was added gene: AGK was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGK were set to 22284826 Phenotypes for gene: AGK were set to Sengers Syndrome (MIM#212350; MONDO:0008922) Review for gene: AGK was set to GREEN