Inherited white matter disorders
Gene: PEX19Comment on list classification: Leave as amber until evidence accumulates.Created: 6 Oct 2016, 9:54 a.m.
Comment on list classification: Confirmed with reviewer that at the current time there is not sufficient evidence for a white matter component for the cases that have been reported.Created: 26 Aug 2016, 9:43 a.m.
Comment on list classification: Not on the Combined leukodystrophy/mitochondrial leukoencephalopathy 94 gene panel from Leeds or 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. However this list does include genes for peroxisomal biogenesis disorders. This gene is a confirmed DD gene for ZELLWEGER SYNDROME and PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14. There are two cases reported in OMIM for different homozygous variants for Peroxisome biogenesis disorder 12A (Zellweger).Created: 19 Aug 2016, 2:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome
Publications
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) 614886
Phenotypes for PEX19 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
Publications for PEX19 were set to 20683989
Publications for PEX19 were set to 20683989
This gene has been classified as Amber List (Moderate Evidence).
This gene has been removed from the panel.
PEX19 was created by [email protected]
PEX19 was added to Inherited white matter disorderspanel. Sources: Expert list