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Severe Paediatric Disorders

Gene: PEX1

Green List (high evidence)

PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 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: PEX1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Heimler syndrome 1, 234580 (3) | Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3) | Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3); Mode of inheritance: Autosomal recessive | 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 1A (Zellweger), 214100
  • Heimler syndrome 1, 234580
  • Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
OMIM
602136
Clinvar variants
Variants in PEX1
Penetrance
None
Publications
Panels with this gene