Hereditary ataxia with onset in adulthood
Gene: PEX2EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 1:28 p.m. | Last Modified: 1 Aug 2019, 1:28 p.m.
Panel Version: 1.179
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Three patients with PEX2 mutations either compound het or homozygous. Mild symptoms that included no cognitive impairment but does show gait ataxia, dysarthria, dysmetria, areflexia, and bilateral pes cavus.
Sources: Expert ReviewCreated: 26 Jul 2019, 9:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER 5B,614867
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Peroxisome biogenesis disorder 5B, 614867
- OMIM
- 170993
- Clinvar variants
- Variants in PEX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cholestasis
- 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
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Neonatal cholestasis
- White matter disorders and cerebral calcification - narrow panel
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PEX2 were changed from PEROXISOME BIOGENESIS DISORDER 5B,614867 to Peroxisome biogenesis disorder 5B, 614867
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: pex2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Nick Beauchamp (Sheffield Diagnostic Genetics Service)gene: PEX2 was added gene: PEX2 was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEX2 were set to 23430938; 7931872; 21392394 Phenotypes for gene: PEX2 were set to PEROXISOME BIOGENESIS DISORDER 5B,614867 Review for gene: PEX2 was set to GREEN gene: PEX2 was marked as current diagnostic