Cholestasis
Gene: PEX1
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 21 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Liver disease is part of the phenotype.Created: 8 Dec 2024, 8:54 a.m. | Last Modified: 8 Dec 2024, 8:54 a.m.
Panel Version: 0.272
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cholestasis
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Amelogenesis imperfecta
- Mendeliome
- Cataract
- Usher Syndrome
- Syndromic Retinopathy
- Prepair 500+
- Polymicrogyria and Schizencephaly
- Callosome
- Peroxisomal Disorders
History Filter Activity
8 Dec 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pex1 has been classified as Green List (High Evidence).
8 Dec 2024, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100
8 Dec 2024, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PEX1 was added gene: PEX1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PEX1 was set to Unknown