Peroxisomal disorders
Gene: PEX12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 3B
Publications
Variants in this GENE are reported as part of current diagnostic practice
Confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 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 3A,B.Created: 19 Aug 2016, 1 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 3A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B
Promoted to V1 3rd October 2016
Phenotypes for PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B 266510
PEX12 was created by sleigh
PEX12 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list