Genomics England
GMS Panels
Panels
Genes and Entities

PTH

parathyroid hormone
OMIM: 168450
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200
Green
in Familial hypoparathyroidism
R-numbers: R153
Signed-off version 2.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism, autosomal dominant, 146200, Hypoparathyroidism, autosomal recessive, 146200