Neonatal cholestasis

Gene: PEX10

Green List (high evidence)

PEX10 (peroxisomal biogenesis factor 10)
EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 21 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, 4:49 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with phenotypes in OMIM and confirmed in Gen2Phen. At least 8 variants identified in at least 5 unrelated cases of Peroxisome biogenesis disorder 6B 614871, which presents as a mild phenotype and includes Increased bile acid intermediates (DHCA and THCA) and at least 4 variants in Peroxisome biogenesis disorder 6A (Zellweger) 614870 in at least 2 cases which includes hepatomegaly (according to Gen2Phen).
Created: 25 Jul 2018, 2:14 p.m.
Comment on phenotypes: Phenotype of Peroxisome biogenesis disorder 6B includes increased bile acid intermediates (DHCA and THCA), and Peroxisome biogenesis disorder 6A (Zellweger) 614870 includes hepatomegaly (according to Gen2Phen), both of which could be relevant to this panel.
Created: 25 Jul 2018, 2:05 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: pex10 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B 614871

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex10 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: pex10 has been classified as Amber List (Moderate Evidence).

25 Jul 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) 614870; Peroxisome biogenesis disorder 6B

25 Jul 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: PEX10 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 PEX10. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PEX10 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PEX10 was created by Ellen McDonagh