Peroxisomal disorders
Gene: PEX1Comment on phenotypes: Variants also reported in Heimler syndrome 1 234580 ARCreated: 23 Aug 2016, 12:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 1B
Publications
Variants in this GENE are reported as part of current diagnostic practice
Confirmed DD gene for Peroxisome biogenesis disorder complementation group I, 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 1A,B. Rated green on the inherited white matter disorders panel.Created: 19 Aug 2016, 12:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A,B; Peroxisome biogenesis disorder 1A (Zellweger)
Promoted to V1 3rd October 2016
Phenotypes for PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger) 214100; Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
PEX1 was created by sleigh
PEX1 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list