Neonatal cholestasis
Gene: PEX19EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 2 homozygous variants reported in unrelated cases. In vitro analysis revealed absence of peroxisomes in patient's fibroblasts (PMID 20683989).Created: 13 Aug 2018, 12:35 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 12A (Zellweger) 614886
- OMIM
- 600279
- Clinvar variants
- Variants in PEX19
- Penetrance
- None
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Structural eye disease
- Fetal anomalies
- Likely inborn error of metabolism
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
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: pex19 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex19 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX19 were set to 10051604; 20683989
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) 614886
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX19. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX19 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX19 was created by Ellen McDonagh