Peroxisomal 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

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 3B

Publications

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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, 1 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859; Peroxisome biogenesis disorder 3B 266510

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PEX12 was created by sleigh

19 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

PEX12 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Expert list