Peroxisomal biogenesis disorders

Gene: PEX7

Green List (high evidence)

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 26 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 1, 215100
  • Peroxisome biogenesis disorder 9B, 614879
  • Refsum Disease
  • Rhizomelic Chondrodysplasia Punctata
  • Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
  • Rhizomelic Chondrodysplasia Punctata, Type 1
  • RCDP1
  • Peroxisomal biogenesis disorders
OMIM
601757
Clinvar variants
Variants in PEX7
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Aug 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list

7 Aug 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN

7 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 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 PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 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)

PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen