White matter disorders and cerebral calcification - childhood onset
Gene: PEX14
PEX14 (peroxisomal biogenesis factor 14)
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000142655
EnsemblGeneIds (GRCh37): ENSG00000142655
OMIM: 601791, Gene2Phenotype
PEX14 is in 18 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Peroxisome-Associated Disorders & Zellweger Syndrome
- PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
- OMIM
- 601791
- Clinvar variants
- Variants in PEX14
- Penetrance
- None
- Publications
- Panels with this gene
-
- Peroxisomal disorders
- Cholestasis
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Inherited white matter disorders
- Fetal hydrops
- Fetal anomalies
- Arthrogryposis
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- DDG2P
- Neonatal cholestasis
- Leukodystrophy, adult onset
- White matter disorders and cerebral calcification - childhood onset
- Likely inborn error of metabolism
History Filter Activity
8 Jan 2019, Gel status: 2
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: 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PEX14 was added gene: PEX14 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Amber Mode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX14 were set to 15146459 Phenotypes for gene: PEX14 were set to Peroxisome-Associated Disorders & Zellweger Syndrome; PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)