Peroxisomal disorders

Gene: AGK

Green List (high evidence)

AGK (acylglycerol kinase)
EnsemblGeneIds (GRCh38): ENSG00000006530
EnsemblGeneIds (GRCh37): ENSG00000006530
OMIM: 610345, Gene2Phenotype
AGK is in 15 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

This is a mitochondrial condition and is not relevant to this panel.
Created: 20 Jul 2020, 9:02 a.m. | Last Modified: 20 Jul 2020, 9:02 a.m.
Panel Version: 1.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P. At least nine variants reported for Sengers syndrome 212350, clinical opinion (Richard Scott) confirms that this phenotype is relevant for this panel.
The wrong phenotype is associated with this gene in Radboud University MENDELIOME GENE PANEL DG 2.5.x, this lists Hyperoxaluria, primary, type 1, 259900 which is actually associated with AGXT
Created: 7 Sep 2016, 8:07 a.m.
Comment on list classification: Sufficient variants reported in Sengers syndrome
Created: 7 Sep 2016, 7:55 a.m.
Comment on phenotypes: Also associated with Cataract 38, autosomal recessive 614691
Created: 23 Aug 2016, 8:46 a.m.

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

7 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGK were set to Sengers syndrome 212350

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGK were set to Cataract 38, autosomal recessive 614691; Sengers syndrome 212350

23 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AGK were set to Hyperoxaluria, primary, type 1, 259900

23 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for AGK was changed to BIALLELIC, autosomal or pseudoautosomal

23 Aug 2016, Gel status: 1

Upload gene information

Sarah Leigh (Genomics England Curator)

AGK was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

23 Aug 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

AGKAll sources for gene: AGK were removed

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AGK was created by sleigh

19 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AGK was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen