TRPV6

transient receptor potential cation channel subfamily V member 6
OMIM: 606680, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TRPV6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review Unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green TRPV6 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188
  • Early onset chronic pancreatitis susceptibility

Green TRPV6 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders
Version 0.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188

Green TRPV6 in Pancreatitis


Level 2: Gastroenterological disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early onset chronic pancreatitis susceptibility

Green TRPV6 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM# 618188

Green TRPV6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, transient neonatal, 618188

Green TRPV6 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hyperparathyroidism, transient neonatal, MIM#618188

Green TRPV6 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
  • Hyperparathyroidism, transient neonatal, MIM# 618188