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Chondrodysplasia punctata

Gene: PEX7

Green List (high evidence)

PEX7 (peroxisomal biogenesis factor 7)
EnsemblGeneIds (GRCh38): ENSG00000112357
EnsemblGeneIds (GRCh37): ENSG00000112357
OMIM: 601757, Gene2Phenotype
PEX7 is in 26 panels

3 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rhizomelic chondrodysplasia punctata, type 1

History Filter Activity

29 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PEX7 was changed to BIALLELIC, autosomal or pseudoautosomal

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 was added to Chondrodysplasia punctatapanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 was added to Chondrodysplasia punctatapanel. Sources: UKGTN

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

PEX7 was added to Chondrodysplasia punctatapanel. Sources: Illumina TruGenome Clinical Sequencing Services