Ataxia and cerebellar anomalies - childhood onset
Gene: PEX16
PEX16 (peroxisomal biogenesis factor 16)
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000121680
EnsemblGeneIds (GRCh37): ENSG00000121680
OMIM: 603360, Gene2Phenotype
PEX16 is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Zellweger syndrome (614876)
- Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
- OMIM
- 603360
- Clinvar variants
- Variants in PEX16
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Neurodegenerative disorders, adult onset
- Ataxia and cerebellar anomalies - childhood onset
- Peroxisomal disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
- Malformations of cortical development
- Inherited white matter disorders
- Hereditary ataxia
- Hereditary ataxia, adult onset
- Fetal hydrops
- DDG2P
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Neonatal cholestasis
- Arthrogryposis
- Leukodystrophy, adult onset
History Filter Activity
9 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 Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PEX16 was added gene: PEX16 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis