Peroxisomal biogenesis disorders

Gene: PEX5

Green List (high evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 20 panels

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Details

History Filter Activity

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX5 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 PEX5 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PEX5 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)

PEX5 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen