Peroxisomal disorders

Gene: AGK

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

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.