Leukodystrophy - paediatric
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Peroxisome biogenesis disorder 1B (NALD/IRD), 601539
- 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
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PEX1 was added gene: PEX1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1B (NALD/IRD), 601539