Bilateral congenital or childhood onset cataracts
Gene: PEX12EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 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. Confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, and for Zellweger syndrome (includes cataract).Created: 29 Apr 2016, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 3A (Zellweger); PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Peroxisome biogenesis disorder 3A (Zellweger)
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
- Peroxisome biogenesis disorder
- OMIM
- 601758
- Clinvar variants
- Variants in PEX12
- 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
- Likely inborn error of metabolism
- 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
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger); PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3; Peroxisome biogenesis disorder
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger); PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PEX12 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 ()PEX12 was added to Cataractspanel. Sources: UKGTN