Neonatal cholestasis

Gene: PEX3

Green List (high evidence)

PEX3 (peroxisomal biogenesis factor 3)
EnsemblGeneIds (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 617370
Created: 13 Aug 2018, 1:28 p.m.

History Filter Activity

3 Sep 2018, Gel status: 3

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: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex3 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger) 614882

13 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX3 were set to 10958759; 28673549

13 Aug 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex3 has been classified as Green List (High Evidence).

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX3. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX3 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX3 was created by Ellen McDonagh