Chondrodysplasia punctata
Gene: PEX7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Green gene with one green review, and is a confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1, therefore it should remain green.Created: 29 Feb 2016, 5:28 p.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 29 Feb 2016, 5:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1
Phenotypes for gene: PEX7 were changed from Rhizomelic chondrodysplasia punctata, type 1, 215100 to Peroxisome biogenesis disorder 9B, OMIM:614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal
PEX7 was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen
PEX7 was added to Chondrodysplasia punctatapanel. Sources: UKGTN
PEX7 was added to Chondrodysplasia punctatapanel. Sources: Illumina TruGenome Clinical Sequencing Services