Research panel - Severe Paediatric Disorders
Gene: PEX6

PEX6 (peroxisomal biogenesis factor 6)
EnsemblGeneIds (GRCh38): ENSG00000124587
EnsemblGeneIds (GRCh37): ENSG00000124587
OMIM: 601498, Gene2Phenotype
PEX6 is in 23 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PEX6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Heimler syndrome 2, 616617 (3) | Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3) | Peroxisome biogenesis disorder 4B, 614863 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Heimler syndrome 2, 616617
Peroxisome biogenesis disorder 4B, 614863
Peroxisome biogenesis disorder 4A (Zellweger), 614862

OMIM

601498

Clinvar variants

Variants in PEX6

Penetrance

None

Publications

30847515

Panels with this gene