P3H1

prolyl 3-hydroxylase 1
OMIM: 610339, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green P3H1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.232	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green P3H1 in Mendeliome Version 1.2656	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VIII, MIM# 610915
Green P3H1 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915) Tags founder
Green P3H1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.310	review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes Osteogenesis imperfecta, type VIII 610915
Green P3H1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VIII, 610915 (3)
Green P3H1 in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Osteogenesis imperfecta, type VIII 610915
Green P3H1 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VIII, MIM#610915
Green P3H1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915) Tags treatable skeletal
Green P3H1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915)
Green P3H1 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteogenesis imperfecta, type VIII, MIM#610915