Neonatal cholestasis
Gene: PEX3EnsemblGeneIds (GRCh38): ENSG00000034693
EnsemblGeneIds (GRCh37): ENSG00000034693
OMIM: 603164, Gene2Phenotype
PEX3 is in 18 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 homozygous variants reported in three unrelated cases. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.Created: 13 Aug 2018, 1:29 p.m.
Variants also associated with ?Peroxisome biogenesis disorder 10B 617370Created: 13 Aug 2018, 1:28 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 10A (Zellweger) 614882
- OMIM
- 603164
- Clinvar variants
- Variants in PEX3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Structural eye disease
- Likely inborn error of metabolism
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Intellectual disability
- Ductal plate malformation
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
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: pex3 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX3 were set to 10958759; 28673549
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex3 has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX3. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX3 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX3 was created by Ellen McDonagh