Retinal disorders
Gene: PEX1
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:05 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Genetic Retinal Degeneration Conditions
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- Complete
- Panels with this gene
-
- Peroxisomal disorders
- Cholestasis
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Inherited white matter disorders
- Fetal hydrops
- Fetal anomalies
- Amelogenesis imperfecta
- Intellectual disability
- Early onset or syndromic epilepsy
- Arthrogryposis
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- DDG2P
- Retinal disorders
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PEX1. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Mar 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).
22 Mar 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
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PEX1 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PEX1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green