Peroxisomal disorders
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: Three different homozygous variants reported in unrelated patients. Functional studies also presented. Associated with phenotype in OMIM and G2PCreated: 23 Aug 2016, 12:47 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 13A (Zellweger) 614887
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cholestasis
- Peroxisomal disorders
- DDG2P
- 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
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX14 were set to 15146459; 26627464; 18285423
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX14 were set to 26627464; 18285423
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX14 were set to 21686775; 26627464; 18285423
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX14 were set to Peroxisome biogenesis disorder 13A (Zellweger) 614887
Created
Sarah Leigh (Genomics England Curator)PEX14 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PEX14 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list