Gene: PEX2

Amber List (moderate evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 22 panels

3 reviews

Ivone Leong (Genomics England Curator)

I don't know

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: PEX2; Suggested intial gene rating: Amber; 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 list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in at least 4 unrelated cases, together with supportive functional studies.
Created: 25 Jul 2018, 10:06 a.m.
Comment on phenotypes: Variants also associated to Peroxisome biogenesis disorder 5B 614867
Created: 25 Jul 2018, 10:01 a.m.

Jane Hartley (Birmingham Women and Children's Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Zellweger syndrome

History Filter Activity

11 Feb 2021, Gel status: 2

Clear Sources

Eleanor Williams (Genomics England Curator)

Source: Expert Review Green was removed from gene: PEX2

14 Jan 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

Source Other was added to PEX2. Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 for gene: PEX2 Publications for gene PEX2 were changed from to 14630978; 1546315; 2454948

7 Jan 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to PEX2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PEX2 was added gene: PEX2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX2 was set to