Peroxisomal biogenesis disorders
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 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
-
- Chondrodysplasia punctata
- Palmoplantar keratodermas
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Retinal disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Likely inborn error of metabolism
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Undiagnosed metabolic disorders
- Leukodystrophy, adult onset
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Arthrogryposis
- Ductal plate malformation
- Hereditary neuropathy
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Malformations of cortical development
History Filter Activity
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Expert list
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)PEX7 was added to Peroxisomal biogenesis disorderspanel. Sources: Radboud University Medical Center, Nijmegen