Neonatal cholestasis

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: biallelic and monoallelic variants reported in Peroxisome biogenesis disorder 4B 614863, but this phenotype is not relevant to this panel
Created: 13 Aug 2018, 2:31 p.m.
Comment on phenotypes: Variants also associated with Peroxisome biogenesis disorder 4B 614863 and Heimler syndrome 2 616617
Created: 13 Aug 2018, 2:30 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zellwegers 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.

13 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex6 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) 614862

13 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX6 were set to 8670792; 8940266; 10408779

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX6. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX6 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX6 was created by Ellen McDonagh