Syndromic Retinopathy
Gene: PEX7
PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 24 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease associations.Created: 27 Apr 2022, 9:09 a.m. | Last Modified: 27 Apr 2022, 9:09 a.m.
Panel Version: 0.13411
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B, MIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- RetNet
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Refsum disease
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- Hereditary Neuropathy - complex
- Chondrodysplasia Punctata
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Skeletal dysplasia
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- Ichthyosis
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Peroxisomal Disorders
History Filter Activity
7 Feb 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PEX7 was added gene: PEX7 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Refsum disease