Malformations of cortical development
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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)
Helen Brittain (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Literature
- Phenotypes
-
- Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
- Peroxisome biogenesis disorder 9B, 614879
- Rhizomelic chondrodysplasia punctata, type 1, 215100
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Palmoplantar keratodermas
- Hereditary neuropathy
- Peroxisomal disorders
- Retinal disorders
- DDG2P
- Chondrodysplasia punctata
- Adult onset leukodystrophy
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating was removed from gene: PEX7. Tag Q3_21_expert_review was removed from gene: PEX7.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: PEX7. Tag Q3_21_expert_review tag was added to gene: PEX7.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders); Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1, 215100
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PEX7 were set to Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders); Peroxisome biogenesis disorder 9B, 614879; Rhizomelic chondrodysplasia punctata, type 1
Added New Source
Louise Daugherty (Genomics England Curator)PEX7 was added to Malformations of cortical development panel. Sources: Expert Review Green,Literature
Created
Louise Daugherty (Genomics England Curator)PEX7 was created by Louise Daugherty