TRPV6:Ensemblv115

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TRPV6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

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

Green TRPV6 in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

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

Green TRPV6 in Pancreatitis


Level 2: Gastroenterological disorders
Version 2.0

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

Green TRPV6 in Calcium and Phosphate disorders


Level 2: Renal and urinary tract disorders; Endocrine disorders
Version 2.0

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

Green TRPV6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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

Green TRPV6 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

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