Inherited white matter disorders

Gene: PEX12

Green List (high evidence)

PEX12 (peroxisomal biogenesis factor 12)
EnsemblGeneIds (GRCh38): ENSG00000108733
EnsemblGeneIds (GRCh37): ENSG00000108733
OMIM: 601758, Gene2Phenotype
PEX12 is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 and ZELLWEGER SYNDROME, 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 3A,B.
Created: 19 Aug 2016, 12:58 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

  • Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_644

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peroxisome-Associated Disorders & Zellweger Syndrome
  • Peroxisome biogenesis disorder 3A,B
  • General Leukodystrophy & Mitochondrial Leukoencephalopathy
  • Peroxisome biogenesis disorder 3A (Zellweger)
  • Peroxisome biogenesis disorder 3B
OMIM
601758
Clinvar variants
Variants in PEX12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Oct 2016, Gel status: 4

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.

19 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PEX12 were set to Peroxisome-Associated Disorders & Zellweger Syndrome;Peroxisome biogenesis disorder 3A,B;General Leukodystrophy & Mitochondrial Leukoencephalopathy;Peroxisome biogenesis disorder 3A (Zellweger);Peroxisome biogenesis disorder 3B

19 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PEX12 were set to 25655951

19 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Aug 2016, Gel status: 0

Added New Source

Ian Berry (Leeds Genetics Laboratory)

PEX12 was added to Inherited white matter disorderspanel. Sources: Expert list

4 Aug 2016, Gel status: 0

Created

Ian Berry (Leeds Genetics Laboratory)

PEX12 was created by [email protected]