Skeletal Dysplasia_Fetal
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
Chirag Patel (Genetic Health Queensland)
Established gene-disease association with biallelic variants causing 2 phenotypes, but no genotype-phenotype correlation. Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a peroxisomal disorder presenting early in life with disproportionate short stature (primarily proximal parts of extremities), broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. An atypical phenotype with longer survival and less neurologic involvement than rhizomelic chondrodysplasia punctata, normal or near-normal growth, and absence of rhizomelia is also reported.Created: 21 Feb 2022, 4:18 a.m. | Last Modified: 21 Feb 2022, 4:18 a.m.
Panel Version: 0.3721
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- 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
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX7 was added gene: PEX7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX7 was set to Unknown