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.
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source: Expert Review Green was removed from gene: PEX2
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
Source Expert Review Amber was added to PEX2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: PEX2 was added gene: PEX2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX2 was set to