White matter disorders and cerebral calcification - childhood onset
Gene: PEX1
PEX1 (peroxisomal biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000127980
EnsemblGeneIds (GRCh37): ENSG00000127980
OMIM: 602136, Gene2Phenotype
PEX1 is in 20 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- Peroxisome biogenesis disorder 1A,B
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Peroxisome biogenesis disorder 1A (Zellweger)
- OMIM
- 602136
- Clinvar variants
- Variants in PEX1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
- Cholestasis
- Peroxisomal disorders
- Retinal disorders
- Bilateral congenital or childhood onset cataracts
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- Arthrogryposis
- Inherited white matter disorders
- Dystonia, chorea or related movement disorder, childhood onset
- Fetal hydrops
- Ductal plate malformation
- Fetal anomalies
- Amelogenesis imperfecta
- Early onset or syndromic epilepsy
- DDG2P
- Neonatal cholestasis
- Malformations of cortical development
History Filter Activity
8 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PEX1 was added gene: PEX1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX1 were set to 25655951 Phenotypes for gene: PEX1 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; Peroxisome biogenesis disorder 1A,B; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Peroxisome biogenesis disorder 1A (Zellweger)