Genomics England
GMS Panels
Panels
Genes and Entities

GHR

growth hormone receptor
OMIM: 600946
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY DWARFISM II 262500
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism, OMIM:262500
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, Increased responsiveness to growth hormone, OMIM:604271
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, Increased responsiveness to growth hormone, OMIM:604271