TRPV6

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TRPV6 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.246

2 reviews 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 1.4541

1 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; Endocrine disorders
Version 1.18

1 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 1.6

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

Green TRPV6 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.417

1 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 1.542

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

Green TRPV6 in Transplant Co-Morbidity


Level 2: Screening
Version 0.21

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