Neonatal cholestasis
Gene: PEX26EnsemblGeneIds (GRCh38): ENSG00000215193
EnsemblGeneIds (GRCh37): ENSG00000215193
OMIM: 608666, Gene2Phenotype
PEX26 is in 19 panels
1 review
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
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 7A (Zellweger)614872
- OMIM
- 608666
- Clinvar variants
- Variants in PEX26
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- Amelogenesis imperfecta
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex26 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger)614872
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX26 were set to 12851857; 15858711; 17336976
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex26 has been classified as Green List (High Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX26. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX26 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX26 was created by Ellen McDonagh