Skeletal dysplasia
Gene: PEX5
Several cases with perxisome biogenesis - cases have chondrodysplasia punctata. Only 2 cases of Rhizomelic Chondrodysplasia Punctata, Type 5 reported so far.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PEX5; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment on list classification: 8 novel variants identified in cell lines derived from Peroxisome biogenesis disorder 2A (Zellweger) 214110 patientsCreated: 2 Aug 2016, 2:20 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and G2P. At least one variant reported in each phenotypeCreated: 29 Jul 2016, 11:49 a.m.
Comment on phenotypes: One variant reported in Peroxisome biogenesis disorder 2B 202370Created: 29 Jul 2016, 11:48 a.m.
Comment on list classification: Three variants identified in three different phenotypesCreated: 11 Jul 2016, 9:32 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:02 p.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716;
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716 for gene: PEX5
Source NHS GMS was added to PEX5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Publications for PEX5 were set to 18712838
Publications for PEX5 were set to 18712838
Publications for PEX5 were set to 18712838
This gene has been classified as Red List (Low Evidence).
Phenotypes for PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716;
PEX5 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for PEX5 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Peroxisome biogenesis disorder 2B 202370; Rhizomelic chondrodysplasia punctata, type 5 616716;
This gene has been classified as Green List (High Evidence).
PEX5 was created by sleigh
PEX5 was added to Unexplained skeletal dysplasiapanel. Sources: