Skeletal dysplasia

Gene: PEX5

Green List (high evidence)

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 Lester

Created: 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

• 18712838

I don't know

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: green

Created: 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 patients

Created: 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 phenotype

Created: 29 Jul 2016, 11:49 a.m.

Comment on phenotypes: One variant reported in Peroxisome biogenesis disorder 2B 202370

Created: 29 Jul 2016, 11:48 a.m.

Comment on list classification: Three variants identified in three different phenotypes

Created: 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.

Green List (high evidence)

Tier 1

Created: 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