Peroxisomal disorders
Gene: PEX13EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P. At least four variants reported in four homozygous patients. Supporting functional studies presented in PMID 23716570Created: 23 Aug 2016, 12:37 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 11B
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Emory Genetics Laboratory
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Peroxisome biogenesis disorder 11A (Zellweger) 614883
- Peroxisome biogenesis disorder 11B 614885
- OMIM
- 601789
- Clinvar variants
- Variants in PEX13
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- 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
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 3rd October 2016
Set publications
Sarah Leigh (Genomics England Curator)Publications for PEX13 were set to 9480815; 19449432; 23716570
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883; Peroxisome biogenesis disorder 11B 614885
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883; Peroxisome biogenesis disorder 11B 614885
Created
Sarah Leigh (Genomics England Curator)PEX13 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PEX13 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list