Bilateral congenital or childhood onset cataracts
Gene: PEX26EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 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 Adrenoleukodystrophy neonatal (includes polar cataract). Also a confirmed gene for infantile refsum disease, Peroxisome biogenesis disorder complementation group 8, and Zellweger syndrome.Created: 29 Apr 2016, 1:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Adrenoleukodystrophy neonatal
- Peroxisome biogenesis disorder 7A (Zellweger)
- Refsum disease infantile
- Peroxisome biogenesis disorder
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- Complete
- Panels with this gene
-
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Intellectual disability
- Peroxisomal disorders
- Cholestasis
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal hydrops
- Amelogenesis imperfecta
- Likely inborn error of metabolism
- Arthrogryposis
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Structural eye disease
- DDG2P
- Neonatal cholestasis
- Fetal anomalies
- Malformations of cortical development
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile;Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX26 were set to Adrenoleukodystrophy neonatal; Peroxisome biogenesis disorder 7A (Zellweger); Refsum disease infantile
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX26 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 ()PEX26 was added to Cataractspanel. Sources: UKGTN