Malformations of cortical development
Gene: PEX7
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Gene was reassessed in view of the Red review by Zornitza Stark (24/08/2020). Although added to this panel for Zellweger syndrome, review of literature did not indicate cortical anomalies as a characteristic feature associated with pathogenic variants in this gene. Patients with PEX7-related phenotypes are more likely to be tested in the context of other clinical symptoms such as cognitive, skeletal, and ocular anomalies.
However, as PEX7 was added following a clinical request to include Zellweger syndrome-associated genes on this panel, inclusion of this gene specifically will be flagged for GMS expert review.Created: 7 Sep 2021, 3:03 p.m. | Last Modified: 7 Sep 2021, 3:03 p.m.
Panel Version: 2.67
This PEX gene is generally associated with CDP, or mild PBD, and not with the more severe Zellweger phenotype. No evidence for association with cortical malformations.Created: 24 Aug 2020, 7:52 a.m. | Last Modified: 24 Aug 2020, 7:52 a.m.
Panel Version: 2.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B (MIM#614879); Rhizomelic chondrodysplasia punctata, type 1 (MIM#215100)
personal communication with Clinical Genetics team in North Thames GMC noting the association between Zellweger syndrome and cortical malformations inc band heterotopiaCreated: 23 Apr 2018, 11:42 a.m.
Tag Q3_21_rating was removed from gene: PEX7. Tag Q3_21_expert_review was removed from gene: PEX7.
Source NHS GMS was added to PEX7. Source Expert Review Red was added to PEX7. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_21_rating tag was added to gene: PEX7. Tag Q3_21_expert_review tag was added to gene: PEX7.
Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders); Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100
Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders); Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1
PEX7 was added to Malformations of cortical development panel. Sources: Expert Review Green,Literature
PEX7 was created by Louise Daugherty