Skeletal dysplasia
Gene: PEX7
Chondrodysplasia punctata gp of SD - at least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic CDP type 1; Rhizomelic chondrodysplasia punctata, type 1, 215100
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: PEX7; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 1Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B 614879; Rhizomelic chondrodysplasia punctata, type 1 215100
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Rhizomelic chondrodysplasia punctata, type 1, 215100; Rhizomelic CDP type 1 for gene: PEX7 Publications for gene PEX7 were changed from to 28742517; 25800479; 7719337
Source NHS GMS was added to PEX7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services PEX7 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen PEX7 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
PEX7 was added to Unexplained skeletal dysplasiapanel. Sources:
PEX7 was created by sleigh