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Skeletal dysplasia

Gene: PEX5

Green List (high evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established association between bi-allelic variants and a range of peroxisomal biogenesis disorders. Thought to account for ~2% of Zellweger syndrome.
Created: 27 Apr 2022, 9:29 p.m. | Last Modified: 27 Apr 2022, 9:29 p.m.
Panel Version: 0.13414

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370; Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 5 616716
  • Peroxisome biogenesis disorder 2A (Zellweger) 214110
OMIM
600414
Clinvar variants
Variants in PEX5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PEX5 was added gene: PEX5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX5 were set to 18712838 Phenotypes for gene: PEX5 were set to Rhizomelic chondrodysplasia punctata, type 5 616716; Peroxisome biogenesis disorder 2A (Zellweger) 214110