Inherited white matter disorders

Gene: PEX14

Amber List (moderate evidence)

PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Leave as amber until evidence clearer.
Created: 6 Oct 2016, 9:53 a.m.

Ellen McDonagh (Genomics England Curator)

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.

Ian Berry (Leeds Genetics Laboratory)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_541

History Filter Activity

6 Oct 2016, Gel status: 2

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

6 Oct 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)

19 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Aug 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome

19 Aug 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX14 were set to 15146459

19 Aug 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX14 were set to 15146459

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

PEX14 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

PEX14 was created by [email protected]