Adult onset leukodystrophy
Gene: PEX3
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 10B, 617370, Peroxisome biogenesis disorder 10A (Zellweger), 614882
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
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
Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Publications for gene PEX3 were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Source Expert Review Green was added to PEX3. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to PEX3.
gene: PEX3 was added gene: PEX3 was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: PEX3 was set to