Cataracts

Gene: PEX1

Green List (high evidence)

PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 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

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 as a phenotype), INFANTILE REFSUM DISEASE and PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1.
Created: 29 Apr 2016, 1 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 1A (Zellweger); Refsum disease infantile; Adrenoleukodystrophy neonatal

History Filter Activity

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger); Refsum disease infantile; Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger); Refsum disease infantile; Adrenoleukodystrophy neonatal

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX1 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 ()

PEX1 was added to Cataractspanel. Sources: UKGTN