GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: PEX5

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 19 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716

Publications

18712838

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Peroxisome biogenesis disorder 2A (Zellweger) 214110
Rhizomelic chondrodysplasia punctata, type 5 616716

OMIM

600414

Clinvar variants

Variants in PEX5

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PEX5 was added gene: PEX5 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) 214110; Rhizomelic chondrodysplasia punctata, type 5 616716

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: PEX5