Genomics England
GMS Panels
Panels
Genes and Entities

GHR

growth hormone receptor
OMIM: 600946
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PITUITARY DWARFISM II 262500
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 2.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, Laron syndrome, MONDO:0009877, short stature due to partial GHR deficiency, MONDO:0011420
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 4.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Laron dwarfism, OMIM:262500, Growth hormone insensitivity, partial, OMIM:604271, I Laron syndrome, MONDO:0009877, short stature due to partial GHR deficiency, MONDO:0011420 ncreased responsiveness to growth hormone, OMIM:604271
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 10.0
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