Genomics England
GMS Panels
Panels
Genes and Entities

PTH

parathyroid hormone
OMIM: 168450
PanelMode of inheritanceDetails
1 panel
Green
in Familial hypoparathyroidism
R-numbers: R153
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism, autosomal dominant, 146200, Hypoparathyroidism, autosomal recessive, 146200