Genes in panel

Hereditary ataxia - adult onset

Gene: PEX2

Amber List (moderate evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 22 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 Amber
Created: 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)

Green List (high evidence)

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 Review
Created: 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

History Filter Activity

1 Aug 2019, Gel status: 2

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

1 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pex2 has been classified as Amber List (Moderate Evidence).

26 Jul 2019, Gel status: 0

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