Bilateral congenital or childhood onset cataracts
Gene: PEX6PEX6 is listed in Gene2Phenotype as a Definitive gene for Peroxisome biogenesis disorder 4B (OMIM:614863), citing Ratbi et al (PMID:26387595). The phenotype described in this article now has separate OMIM entry: Heimler syndrome 2, OMIM:616617.Created: 1 Apr 2022, 2:25 p.m. | Last Modified: 1 Apr 2022, 2:25 p.m.
Panel Version: 2.102
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Heimler syndrome 2 OMIM:616617
Publications
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, and is a Confirmed DD gene for ZELLWEGER SYNDROME.Created: 29 Apr 2016, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME
Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME; Peroxisome biogenesis disorder to Heimler syndrome 2, OMIM:616617
Publications for gene: PEX6 were set to
This gene has been classified as Green List (High Evidence).
Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME;Peroxisome biogenesis disorder
Phenotypes for PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger); Confirmed DD gene for ZELLWEGER SYNDROME
Mode of inheritance for PEX6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PEX6 was added to Cataractspanel. Sources: UKGTN