Genomics England
GMS Panels
Panels
Genes and Entities

GH1

growth hormone 1
OMIM: 139250
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Growth hormone deficiency, isolated, type IA, OMIM:262400, Growth hormone deficiency, isolated, type IB, OMIM:612781, Growth hormone deficiency, isolated, type II, OMIM:173100, Growth hormone deficiency, Kowarski syndrome, OMIM:262650
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 4.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Growth hormone deficiency, isolated, type IA, OMIM:262400, Growth hormone deficiency, isolated, type IB, OMIM:612781, Growth hormone deficiency, isolated, type II, OMIM:173100