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Fetal anomalies

Gene: PEX2

Green List (high evidence)

PEX2 (peroxisomal biogenesis factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164751
EnsemblGeneIds (GRCh37): ENSG00000164751
OMIM: 170993, Gene2Phenotype
PEX2 is in 21 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for ZELLWEGER SYNDROME, Confirmed for INFANTILE REFSUM DISEASE and Confirmed for PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5.
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 for gene: PEX2

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX2

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PEX2 was added gene: PEX2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX2 were set to ZELLWEGER SYNDROME