Neonatal cholestasis
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
2 reviews
Sarah Leigh (Genomics England Curator)
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 614867Created: 25 Jul 2018, 10:01 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 5A (Zellweger), 614866
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Ductal plate malformation
- Arthrogryposis
- 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.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex2 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX2 were set to 1546315; 14630978; 2454948
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex2 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX2 were set to Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger) 614866
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX2. Panel: Cholestasis
Added New Source, Set mode of inheritance, Set penetrance
Ellen McDonagh (Genomics England Curator)UKGTN was added to PEX2. Panel: Cholestasis Model of inheritance for gene PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene PEX2 were set to Neonatal and Adult Cholestasis, Peroxisome Biogenesis Disorder 5A (Zellweger)
Added New Source
Ellen McDonagh (Genomics England Curator)PEX2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX2 was created by Ellen McDonagh