Neonatal cholestasis
Gene: PEX5EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 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 1 variant reported in a single case. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.Created: 13 Aug 2018, 1:51 p.m.
Comment on list classification: based on PEX5 being listed as a "confirmed" gene for Zellweger in Gen2PhenCreated: 13 Aug 2018, 1:49 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716Created: 13 Aug 2018, 1:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 2A (Zellweger) 214110
- OMIM
- 600414
- Clinvar variants
- Variants in PEX5
- Penetrance
- None
- Panels with this gene
-
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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: pex5 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex5 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX5. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX5 was created by Ellen McDonagh