This Panel is marked as Deleted
Cholestasis Victorian Clinical Genetics Services
Gene: PEX7
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Peroxisomal disorders
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Leukodystrophy, adult onset
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Intellectual disability
- Arthrogryposis
- Ductal plate malformation
- Hereditary neuropathy
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Glaucoma (developmental)
- Malformations of cortical development
- Likely inborn error of metabolism
- Chondrodysplasia punctata
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)PEX7 was added to Cholestasis Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)PEX7 was created by Sarah Leigh