Cholestasis

Gene: PEX6

Green List (high evidence)

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.
Created: 28 Jan 2019, 2:15 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: PEX6; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

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

28 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Other was added to PEX6. Mode of inheritance for gene PEX6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger) 614862 for gene: PEX6 Publications for gene PEX6 were changed from to 10408779; 8670792; 8940266

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PEX6. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PEX6 was added gene: PEX6 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX6 was set to