Ductal plate malformation
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
-
- Radboud University Medical Center, Nijmegen, Expert list
- Phenotypes
-
- Peroxisome biogenesis disorder 6A (Zellweger) (614870)
- Peroxisome biogenesis disorder 6B (614871)
- OMIM
- 602859
- Clinvar variants
- Variants in PEX10
- Penetrance
- None
- Panels with this gene
-
- Peroxisomal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Fetal hydrops
- Arthrogryposis
- Adult onset leukodystrophy
- Malformations of cortical development
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
30 Nov 2018, Gel status: 1
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Confirmed to be a causative ge
12 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: PEX10 was added gene: PEX10 was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen, Expert list Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger) (614870); Peroxisome biogenesis disorder 6B (614871)