P3H1

prolyl 3-hydroxylase 1
OMIM: 610339, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
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