Neonatal cholestasis

Gene: PEX16

Green List (high evidence)

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with the relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.
Created: 13 Aug 2018, 11:54 a.m.
Comment on phenotypes: Variants also reported in Peroxisome biogenesis disorder 8B 614877
Created: 13 Aug 2018, 10:32 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

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.

13 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex16 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX16 were set to 20681997; 9837814; 11890679

13 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex16 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: PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) 614876

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PEX16. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX16 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX16 was created by Ellen McDonagh