Inherited white matter disorders

Gene: PEX19

Amber List (moderate evidence)

PEX19 (peroxisomal biogenesis factor 19)
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 19 panels

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Leave as amber until evidence accumulates.
Created: 6 Oct 2016, 9:54 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 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.

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_540

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).

24 Aug 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) 614886

19 Aug 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX19 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)

19 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX19 were set to 20683989

19 Aug 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX19 were set to 20683989

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: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

PEX19 was created by [email protected]

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

PEX19 was added to Inherited white matter disorderspanel. Sources: Expert list