Genomics England
GMS Panels
Panels
Genes and Entities

TRPV6

transient receptor potential cation channel subfamily V member 6
OMIM: 606680
PanelMode of inheritanceDetails
3 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Transient Neonatal Hyperparathyroidism, Hyperparathyroidism, transient neonatal, 618188
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, transient neonatal, 618188
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, transient neonatal, 618188