Peroxisomal disorders

Gene: PEX19

Green List (high evidence)

PEX19 (peroxisomal biogenesis factor 19)
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 18 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P. Two variants reported in two different homozygotes. This gene is also rated "Green" on Intellectual disability and Cataracts panels after expert review.
Created: 24 Aug 2016, 9:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 12A (Zellweger) 614886

Publications

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)

Publications

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

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

24 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

24 Aug 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (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

Sarah Leigh (Genomics England Curator)

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

19 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX19 were set to 10051604; 20683989

19 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PEX19 was created by sleigh

19 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PEX19 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list