Neonatal cholestasis
Gene: PEX14EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 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 (two nonsense variants and one 41kb deletion that removes exon 3 resulting in a frameshift, and premature protein truncation).Created: 25 Jul 2018, 4 p.m.
Comment on phenotypes: Peroxisome biogenesis disorder 13A (Zellweger) 614887 phenotype includes Hepatomegaly and CholestasisCreated: 25 Jul 2018, 3:47 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Zellwegers syndrome; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Peroxisome biogenesis disorder 13A (Zellweger) 614887
- Tags
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- DDG2P
- Intellectual disability
- 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
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
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: pex14 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex14 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX14 were set to 15146459; 18285423; 26627464
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) 614887
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX14. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX14 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX14 was created by Ellen McDonagh