Cataracts

Gene: PEX3

Green List (high evidence)

PEX3 (peroxisomal biogenesis factor 3)
EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 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, and is a confirmed DD gene for Zellweger syndrome (includes cataract as a phenotype).
Created: 29 Apr 2016, 1:19 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 10A (Zellweger); confirmed DD gene for Zellweger syndrome

History Filter Activity

14 Jun 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).

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger); confirmed DD gene for Zellweger syndrome;Peroxisome biogenesis disorder

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger); confirmed DD gene for Zellweger syndrome

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX3 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 ()

PEX3 was added to Cataractspanel. Sources: UKGTN