Cholestasis
Gene: PEX26
PEX26 (peroxisomal biogenesis factor 26)
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
2 reviews
Ivone Leong (Genomics England Curator)
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call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green based on unpublished data from patient cohort from USA (2,000 patients at Emory) that this is one of the Zellweger genes with significant prevalence.Created: 28 Jan 2019, 2:10 p.m.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 givenCreated: 7 Jan 2019, 4:42 p.m.
Sarah Leigh (Genomics England Curator)
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 614873Created: 13 Aug 2018, 12:45 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- NHS GMS
- Phenotypes
-
- Peroxisome biogenesis disorder 7A (Zellweger)614872
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Amelogenesis imperfecta
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Ductal plate malformation
History Filter Activity
28 Jan 2019, Gel status: 4
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pex26 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 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
7 Jan 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to PEX26. 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: PEX26 was added gene: PEX26 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX26 was set to