Cataracts

Gene: PEX26

Green List (high evidence)

PEX26 (peroxisomal biogenesis factor 26)
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

History Filter Activity

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile;Peroxisome biogenesis disorder

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX26 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PEX26 was added to Cataractspanel. Sources: UKGTN