Cholestasis

Gene: PEX1

Green List (high evidence)

PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels

5 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call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.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, 2:10 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: PEX1; 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.

Anna de Burca (Genomics England Curator)

Red List (low evidence)

Although Zellweger syndrome is a cause of hepatic dysfunction, it is not associated with ductal plate malformations.
Created: 26 Nov 2018, 10:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:55 p.m.

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Variants also associated with Heimler syndrome 1 234580 and Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Created: 25 Jul 2018, 9:53 a.m.
Comment on list classification: Associated with relevant phenotype (Peroxisome biogenesis disorder 1A (Zellweger), 214100) in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases. Supportive functional studies also provided.
Created: 25 Jul 2018, 9:51 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Zellweger syndrome

History Filter Activity

28 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: pex1 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 PEX1. Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome; Neonatal and Adult Cholestasis for gene: PEX1 Publications for gene PEX1 were changed from to 9398848; 22871920; 9398847

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PEX1. 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: PEX1 was added gene: PEX1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX1 was set to