Inherited white matter disorders
Gene: PEX19EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 18 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Leave as amber until evidence accumulates.Created: 6 Oct 2016, 9:54 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Confirmed with reviewer that at the current time there is not sufficient evidence for a white matter component for the cases that have been reported.Created: 26 Aug 2016, 9:43 a.m.
Comment on list classification: Not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94 gene panel from Leeds or on the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951. However this list does include genes for peroxisomal biogenesis disorders. This gene is a confirmed DD gene for ZELLWEGER SYNDROME and PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14. There are two cases reported in OMIM for different homozygous variants for Peroxisome biogenesis disorder 12A (Zellweger).Created: 19 Aug 2016, 2:53 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_540
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Peroxisome biogenesis disorder 12A (Zellweger) 614886
- OMIM
- 600279
- Clinvar variants
- Variants in PEX19
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Fetal hydrops
- Adult onset leukodystrophy
- Structural eye disease
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Ductal plate malformation
- DDG2P
- Bilateral congenital or childhood onset cataracts
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Arthrogryposis
- Malformations of cortical development
- Early onset or syndromic epilepsy
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) 614886
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX19 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX19 were set to 20683989
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX19 were set to 20683989
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Created
Ian Berry (Leeds Genetics Laboratory)PEX19 was created by [email protected]
Added New Source
Ian Berry (Leeds Genetics Laboratory)PEX19 was added to Inherited white matter disorderspanel. Sources: Expert list