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
-
- Likely inborn error of metabolism
- Peroxisomal disorders
- DDG2P
- Adult onset leukodystrophy
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Fetal hydrops
- Early onset or syndromic epilepsy
- Bilateral congenital or childhood onset cataracts
- Malformations of cortical development
- Arthrogryposis
- Ductal plate malformation
- Retinal disorders
- Palmoplantar keratodermas
- Skeletal dysplasia
- Intellectual disability
- Neonatal cholestasis
- Glaucoma (developmental)
- Hereditary neuropathy
- Structural eye disease
- Chondrodysplasia punctata
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