Neonatal cholestasis

Gene: PEX2

Green List (high evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in at least 4 unrelated cases, together with supportive functional studies.
Created: 25 Jul 2018, 10:06 a.m.
Comment on phenotypes: Variants also associated to Peroxisome biogenesis disorder 5B 614867
Created: 25 Jul 2018, 10:01 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zellweger syndrome

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.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX2 were set to 1546315; 14630978; 2454948

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger) 614866

21 Jun 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX2. Panel: Cholestasis

18 May 2018, Gel status: 2

Added New Source, Set mode of inheritance, Set penetrance

Ellen McDonagh (Genomics England Curator)

UKGTN was added to PEX2. Panel: Cholestasis Model of inheritance for gene PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX2 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 5A (Zellweger)

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX2 was created by Ellen McDonagh