Palmoplantar keratodermas
Gene: PEX7EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 23 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.Created: 6 Dec 2024, 12:38 p.m. | Last Modified: 6 Dec 2024, 12:38 p.m.
Panel Version: 3.27
Sarah Leigh (Genomics England Curator)
Palmoplantar keratodermas is not a feature of the phenotype associated with this gene.Created: 26 Feb 2024, 1:19 p.m. | Last Modified: 26 Feb 2024, 1:19 p.m.
Panel Version: 3.24
Zornitza Stark (Australian Genomics)
Ichthyosis is listed as a feature of peroxisome biogenesis disorder 9B (AR) and of rhizomelic chondrodysplasia punctata, type 1 (AR). However, paucity of actual reports and cannot find evidence of association with PPK.Created: 19 Aug 2020, 6:25 a.m. | Last Modified: 19 Aug 2020, 6:25 a.m.
Panel Version: 1.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B (AR); Rhizomelic chondrodysplasia punctata, type 1
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PEX7; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 28 Jan 2019, 10:47 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Phenotypes
-
- Refsum disease
- OMIM
- 601757
- Clinvar variants
- Variants in PEX7
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Palmoplantar keratodermas
- Hereditary neuropathy
- Peroxisomal disorders
- Early onset or syndromic epilepsy
- DDG2P
- Chondrodysplasia punctata
- Intellectual disability
- Adult onset leukodystrophy
- Fetal hydrops
- Malformations of cortical development
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Ductal plate malformation
- Structural eye disease
- Arthrogryposis
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_demote_red was removed from gene: PEX7.
Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Red was added to PEX7. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_demote_red tag was added to gene: PEX7.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PEX7.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PEX7 was added gene: PEX7 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX7 were set to Refsum disease