Mitochondrial disease
Gene: AGK

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

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe perinatal disorder, including HCM.

PMID: 25208612 - Sufficient evidence to be classified as green for Sengers syndrome

PMID: 22415731 - 1 family with a homozygous splice variant (c.424-3C>G) and isolated cataracts. RT-PCR of patient fibroblasts showed complete skipping of exon 8 with resulting frameshift and predicted premature truncation (r.424_518del, p.Ala142Thrfs*4)
Created: 29 Mar 2022, 11:40 p.m. | Last Modified: 29 Mar 2022, 11:40 p.m.

Panel Version: 0.12282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sengers syndrome, MIM#212350; Cataract 38 MIM#614691

Publications

PMID: 22415731
25208612

Created: 29 Mar 2022, 11:40 p.m.
Last Modified: 29 Mar 2022, 11:40 p.m.
Panel version: Imported from Mendeliome panel version 0.12282

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship
Expert Review Green

OMIM

610345

Clinvar variants

Variants in AGK

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGK was added gene: AGK was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: AGK was set to Unknown

Mitochondrial disease Gene: AGK