Cholestasis
Gene: PEX14
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark. There is currently not enough evidence to support gene-disease association. This gene has been given Amber status until further evidence is available.Created: 6 Oct 2020, 3:38 p.m. | Last Modified: 6 Oct 2020, 3:38 p.m.
Panel Version: 1.31
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Peroxisome biogenesis disorder 13A (Zellweger), 614887
- 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
6 Oct 2020, Gel status: 2
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pex14 has been classified as Amber List (Moderate Evidence).
6 Oct 2020, Gel status: 0
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PEX14 were set to 21686775; 18285423
6 Oct 2020, Gel status: 0
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PEX14 were changed from Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 to Peroxisome biogenesis disorder 13A (Zellweger), 614887
9 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PEX14 was added gene: PEX14 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 21686775; 18285423 Phenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger), MIM# 614887 Review for gene: PEX14 was set to AMBER