Bilateral congenital or childhood onset cataracts
Gene: PEX26
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Adrenoleukodystrophy neonatal (includes polar cataract). Also a confirmed gene for infantile refsum disease, Peroxisome biogenesis disorder complementation group 8, and Zellweger syndrome.Created: 29 Apr 2016, 1:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile
Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile;Peroxisome biogenesis disorder
Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile
Mode of inheritance for PEX26 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PEX26 was added to Cataractspanel. Sources: UKGTN