Palmoplantar keratodermas
Gene: PEX7
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
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
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.
Tag Q1_24_demote_red tag was added to gene: PEX7.
Source London North GLH was added to PEX7.
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