Peroxisomal disorders

Gene: PEX16

Green List (high evidence)

PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 22 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P. At least four homozygous variants reported
Created: 23 Aug 2016, 1:14 p.m.
Comment on publications: PEX16 is not mentioned in 5655951. Supporting Drosphila model reported in 21826223
Created: 23 Aug 2016, 1:11 p.m.

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PEROXISOME BIOGENESIS DISORDER 8B

Publications

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

History Filter Activity

3 Oct 2016, Gel status: 3

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

23 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PEX16 were set to 26870756; 26644994; 21826223; 20647552

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PEX16 was created by sleigh

19 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

PEX16 was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Expert list