Cholestasis
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
3 reviews
Ivone Leong (Genomics England Curator)
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: PEX2; Suggested intial gene rating: Amber; 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 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
-
- Other
- Expert Review Amber
- NHS GMS
- 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
-
- Fetal anomalies
- Bilateral congenital or childhood onset cataracts
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Structural eye disease
- Likely inborn error of metabolism
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Malformations of cortical development
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Ductal plate malformation
- Arthrogryposis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Neonatal cholestasis
- Retinal disorders
History Filter Activity
Clear Sources
Eleanor Williams (Genomics England Curator)Source: Expert Review Green was removed from gene: PEX2
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source Other was added to PEX2. Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Peroxisome Biogenesis Disorder 5A (Zellweger), 614866 for gene: PEX2 Publications for gene PEX2 were changed from to 14630978; 1546315; 2454948
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to PEX2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PEX2 was added gene: PEX2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: PEX2 was set to