Neonatal cholestasis

Gene: PEX13

Green List (high evidence)

PEX13 (peroxisomal biogenesis factor 13)
EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green, after discussion with the Genomics England clinical team that Zellweger genes (with enough evidence to be causative of Zellweger) should be included for this panel.
Created: 8 Aug 2018, 4:57 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883 and 2 in Peroxisome biogenesis disorder 11B 614885 in a total of at least 6 unrelated cases. However, phenotypes do not appear to be relevant to the cholestasis panel.
Created: 25 Jul 2018, 3:31 p.m.
Comment on phenotypes: Neither phenotype appears to be relevant for the cholestasis panel
Created: 25 Jul 2018, 3:28 p.m.

Jane Hartley (Birmingham Women and Children's Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zellwegers syndrome; cholestasis

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.

8 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pex13 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex13 has been classified as Red List (Low Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883; Peroxisome biogenesis disorder 11B 614885

25 Jul 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PEX13 were set to 10332040; 19449432

25 Jul 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX13 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 PEX13. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX13 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX13 was created by Ellen McDonagh