Bilateral congenital or childhood onset cataracts
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Zellweger sydrome (includes cataract as a phenotype). Multiple cases reported in OMIM.Created: 29 Apr 2016, 1:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 5A, (Zellweger); Zellweger sydrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 5A, (Zellweger)
- Zellweger sydrome
- Peroxisome biogenesis disorder
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX2 were set to Peroxisome biogenesis disorder 5A, (Zellweger); Zellweger sydrome;Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX2 were set to Peroxisome biogenesis disorder 5A, (Zellweger); Zellweger sydrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX2 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()PEX2 was added to Cataractspanel. Sources: UKGTN