Research panel - Severe Paediatric Disorders
Gene: PEX7

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 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: PEX7; Recommended initial gene rating: Green List (high evidence); Phenotypes: Peroxisome biogenesis disorder 9B, 614879 (3) | Rhizomelic chondrodysplasia punctata, type 1, 215100 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
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

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Rhizomelic chondrodysplasia punctata, type 1, 215100
Peroxisome biogenesis disorder 9B, 614879

OMIM

601757

Clinvar variants

Variants in PEX7

Penetrance

None

Publications

30847515

Panels with this gene