Adult onset leukodystrophy
Gene: PEX10EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 20 panels
4 reviews
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
PEX genes all seem to be based on this paper PMID:20301621 https://www.ncbi.nlm.nih.gov/books/NBK1448/Created: 24 Jul 2019, 2:49 p.m. | Last Modified: 24 Jul 2019, 2:49 p.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 6B, 614871
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Ian Berry (Leeds Genetics Laboratory)
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
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
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Peroxisome biogenesis disorder 6B, 614871
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Peroxisomal disorders
- DDG2P
- Fetal anomalies
- Adult onset leukodystrophy
- Inherited white matter disorders
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Neonatal cholestasis
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene PEX10 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to PEX10. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PEX10.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PEX10 was added gene: PEX10 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: PEX10 was set to