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Fetal anomalies

Gene: PEX5

Green List (high evidence)

PEX5 (peroxisomal biogenesis factor 5)
EnsemblGeneIds (GRCh38): ENSG00000139197
EnsemblGeneIds (GRCh37): ENSG00000139197
OMIM: 600414, Gene2Phenotype
PEX5 is in 20 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 ADRENOLEUKODYSTROPHY NEONATAL, Confirmed for INFANTILE REFSUM DISEASE and Confirmed for ZELLWEGER SYNDROME.
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 ZELLWEGER SYNDROME for gene: PEX5

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INFANTILE REFSUM DISEASE for gene: PEX5

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PEX5 was added gene: PEX5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX5 were set to ADRENOLEUKODYSTROPHY NEONATAL