Research panel - Severe Paediatric Disorders
Gene: PEX11B

PEX11B (peroxisomal biogenesis factor 11 beta)
EnsemblGeneIds (GRCh38): ENSG00000131779
EnsemblGeneIds (GRCh37): ENSG00000131779
OMIM: 603867, Gene2Phenotype
PEX11B is in 16 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: PEX11B; Recommended initial gene rating: I don't know; Phenotypes: ?Peroxisome biogenesis disorder 14B, 614920 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:28 p.m.
Last Modified: 20 Feb 2020, 5:28 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Amber
Expert list

Phenotypes

?Peroxisome biogenesis disorder 14B, 614920

OMIM

603867

Clinvar variants

Variants in PEX11B

Penetrance

None

Publications

30847515

Panels with this gene