1. Panels
  2. Syndromic Retinopathy
  3. PEX1
STRs in panel
Prev Next
Regions in panel
Prev Next

Syndromic Retinopathy

Gene: PEX1

Green List (high evidence)
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

*Genotype-phenotype correlation: severity is usually associated with the effect on peroxisome assembly, hence PTV variants that completely abolish activity are usually more severe than missense. PBD is caused by biallelic PTV, whereas milder HS is caused by a PTV in trans with a hypomorphic missense (GeneReviews; PMID: 26387595)

Few missense reported
Created: 27 Nov 2020, 1:25 a.m. | Last Modified: 27 Nov 2020, 1:25 a.m.
Panel Version: 0.5474

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Heimler syndrome 1 234580; Peroxisome biogenesis disorder 1A (Zellweger) 214100; . Peroxisome biogenesis disorder 1B (NALD/IRD) 601539

Publications

Created: 27 Nov 2020, 1:25 a.m.
Last Modified: 27 Nov 2020, 1:25 a.m.
Panel version: Imported from Mendeliome panel version 0.5474

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: PEX1 was added gene: PEX1 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Heimler syndrome 1, 234580