Inherited white matter disorders
Gene: PEX10EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 and ZELLWEGER SYNDROME, more than 3 unrelated cases and different variants reported in OMIM. 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 for Peroxisome biogenesis disorder 6A,B.Created: 19 Aug 2016, 12:10 p.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_643
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
- ZELLWEGER SYNDROME
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Hereditary neuropathy or pain disorder
- 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
- Hereditary neuropathy
- 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 McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7;ZELLWEGER SYNDROME
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PEX10 were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)PEX10 was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)PEX10 was created by [email protected]