Peroxisomal biogenesis disorders

Gene: PEX19

Green List (high evidence)

PEX19 (peroxisomal biogenesis factor 19)
EnsemblGeneIds (GRCh38): ENSG00000162735
EnsemblGeneIds (GRCh37): ENSG00000162735
OMIM: 600279, Gene2Phenotype
PEX19 is in 19 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Peroxisome biogenesis disorder 12A (Zellweger), 614886
  • Zellweger Syndrome
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Peroxisomal biogenesis disorders
OMIM
600279
Clinvar variants
Variants in PEX19
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX19 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX19 was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PEX19 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PEX19 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services

7 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PEX19 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen