Bilateral congenital or childhood onset cataracts
Gene: PEX1EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 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 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 1A (Zellweger)
- Refsum disease infantile
- Adrenoleukodystrophy neonatal
- Peroxisome biogenesis disorder
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- Complete
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- 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
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Amelogenesis imperfecta
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger); Refsum disease infantile; Adrenoleukodystrophy neonatal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX1 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 ()PEX1 was added to Cataractspanel. Sources: UKGTN