Neonatal cholestasis
Gene: PEX1EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:55 p.m.
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Variants also associated with Heimler syndrome 1 234580 and Peroxisome biogenesis disorder 1B (NALD/IRD) 601539Created: 25 Jul 2018, 9:53 a.m.
Comment on list classification: Associated with relevant phenotype (Peroxisome biogenesis disorder 1A (Zellweger), 214100) in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 3 unrelated cases. Supportive functional studies also provided.Created: 25 Jul 2018, 9:51 a.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellweger syndrome
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
- Zellweger syndrome
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Retinal disorders
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Amelogenesis imperfecta
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
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
Louise Daugherty (Genomics England Curator)Gene: pex1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100; Zellweger syndrome
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex1 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX1 were set to 22871920; 9398847; 9398848
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX1 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 1A (Zellweger), 214100
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex1 has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX1. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to PEX1. Panel: Cholestasis Model of inheritance for gene PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX1 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 1A (Zellweger)
Added New Source
Ellen McDonagh (Genomics England Curator)PEX1 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX1 was created by Ellen McDonagh