White matter disorders and cerebral calcification - childhood onset
Gene: PEX10
PEX10 (peroxisomal biogenesis factor 10)
EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000157911
EnsemblGeneIds (GRCh37): ENSG00000157911
OMIM: 602859, Gene2Phenotype
PEX10 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
- ZELLWEGER SYNDROME
- PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - childhood onset
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- DDG2P
- Neonatal cholestasis
- Malformations of cortical development
- Leukodystrophy, adult onset
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: PEX10 was added gene: PEX10 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX10 were set to 25655951 Phenotypes for gene: PEX10 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; ZELLWEGER SYNDROME; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7