Cataracts

Gene: PEX5

Green List (high evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 20 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 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5

Publications

  • Baroy et al (2015) Hum Mol Genet 24(20:5845-5854
  • Ebberink et al (2009) Hum Mutat 30:93-98

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review.
Created: 3 Jun 2016, 7:22 a.m.
The PEX5L gene is on the Manchester congenital cataracts panel, but after feedback from Sarah Waller, this is likely meant to be the PEX5 gene which has two isoforms; PEX5L and PEX5S.
Created: 2 Jun 2016, 3:07 p.m.
This is a confirmed DD gene for Zellweger syndrome, infantile refsum disease and adrenoleukodystrophy neonatal.
Created: 2 Jun 2016, 3:03 p.m.

Details

History Filter Activity

3 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).

3 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX5 were set to Baroy et al (2015) Hum Mol Genet 24(20:5845-5854; Ebberink et al (2009) Hum Mutat 30:93-98

3 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).

2 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PEX5 was created by ellenmcdonagh

2 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX5 was added to Cataractspanel. Sources: Expert Review