Neonatal cholestasis
Gene: PEX12EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 19 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 4 cases.Created: 25 Jul 2018, 3:17 p.m.
Comment on phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) 614859 includes clinical features of hepatomegaly and intrahepatic biliary dysgenesis. Genomics Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.
Created: 25 Jul 2018, 2:58 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 3A (Zellweger) 614859
- Peroxisome biogenesis disorder 3B 266510
- OMIM
- 601758
- Clinvar variants
- Variants in PEX12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex12 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX12 were set to 9090384; 9354782
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger) 614859; Peroxisome biogenesis disorder 3B 266510
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX12. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX12 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX12 was created by Ellen McDonagh