Inherited white matter disorders
Gene: PEX14Comment on list classification: Leave as amber until evidence clearer.Created: 6 Oct 2016, 9:53 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 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. It is a confirmed DD gene for ZELLWEGER SYNDROME and PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K. 2 unrelated cases with different homozygous variants reported in OMIM. I am therefore unsure of whether this should be on this panel as green (though there are green genes for other peroxisome disorders).Created: 19 Aug 2016, 2:09 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 PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome
Publications for PEX14 were set to 15146459
Publications for PEX14 were set to 15146459
PEX14 was added to Inherited white matter disorderspanel. Sources: Expert list
PEX14 was created by [email protected]