Neonatal cholestasis
Gene: PEX13EnsemblGeneIds (GRCh38): ENSG00000162928
EnsemblGeneIds (GRCh37): ENSG00000162928
OMIM: 601789, Gene2Phenotype
PEX13 is in 18 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green, after discussion with the Genomics England clinical team that Zellweger genes (with enough evidence to be causative of Zellweger) should be included for this panel.Created: 8 Aug 2018, 4:57 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotypes in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in Peroxisome biogenesis disorder 11A (Zellweger) 614883 and 2 in Peroxisome biogenesis disorder 11B 614885 in a total of at least 6 unrelated cases. However, phenotypes do not appear to be relevant to the cholestasis panel.Created: 25 Jul 2018, 3:31 p.m.
Comment on phenotypes: Neither phenotype appears to be relevant for the cholestasis panelCreated: 25 Jul 2018, 3:28 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 11A (Zellweger) 614883
- Peroxisome biogenesis disorder 11B 614885
- OMIM
- 601789
- Clinvar variants
- Variants in PEX13
- Penetrance
- None
- Publications
- Panels with this gene
-
- 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
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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
Ellen McDonagh (Genomics England Curator)Gene: pex13 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: pex13 has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger) 614883; Peroxisome biogenesis disorder 11B 614885
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PEX13 were set to 10332040; 19449432
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to PEX13. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)PEX13 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)PEX13 was created by Ellen McDonagh