Peroxisomal disordersGene: AGK
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
Cataract 38, autosomal recessive, MIM# 614691; Sengers syndrome, MIM# 212350
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.
Promoted to V1 3rd October 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for AGK were set to Sengers syndrome 212350
Phenotypes for AGK were set to Cataract 38, autosomal recessive 614691; Sengers syndrome 212350
Phenotypes for AGK were set to Hyperoxaluria, primary, type 1, 259900
Mode of inheritance for AGK was changed to BIALLELIC, autosomal or pseudoautosomal
AGK was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
AGKAll sources for gene: AGK were removed
AGK was created by sleigh
AGK was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen