Neonatal cholestasis

Gene: PEX5

Red List (low evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (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 Gen2Phen
Created: 13 Aug 2018, 1:49 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716
Created: 13 Aug 2018, 1:37 p.m.

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

13 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Red List (Low Evidence).

13 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex5 has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110

13 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX5. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX5 was created by Ellen McDonagh