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Fetal anomalies v0.3765 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Fetal anomalies v0.3765 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Fetal anomalies v0.3765 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 to Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100
Fetal anomalies v0.3764 PEX7 Zornitza Stark Publications for gene: PEX7 were set to
Fetal anomalies v0.3721 PEX7 Chirag Patel reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11781871, 12325024,,; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM# 614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11