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call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.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: PEX26; 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.
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 6 variants reported in 5 unrelated cases. Genomics England Clinical team consider Zellweger syndrome to be an appropriate phenotype for the Neonatal cholestasis panel.
Created: 13 Aug 2018, 12:48 p.m.
Comment on phenotypes: Variants also reported in Peroxisome biogenesis disorder 7B 614873
Created: 13 Aug 2018, 12:45 p.m.
Gene: pex26 has been classified as Green List (High Evidence).
Source Other was added to PEX26. Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger)614872 for gene: PEX26 Publications for gene PEX26 were changed from to 12851857; 17336976; 15858711
Source Expert Review Green was added to PEX26. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: PEX26 was added gene: PEX26 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX26 was set to