GHR

growth hormone receptor
OMIM: 600946, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green GHR in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Laron syndrome
Red GHR in Familial hypercholesterolaemia Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.31	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Laron dwarfism, 262500 Short stature, 604271 {Hypercholesterolemia, familial, modification of}, 143890 Increased responsiveness to growth hormone
Green GHR in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271
Green GHR in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271
Green GHR in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PAGE DD-Gene2Phenotype Phenotypes Growth hormone insensitivity, partial, OMIM:604271 Laron dwarfism, OMIM:262500
Red GHR in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Laron dwarfism, 262500 Short stature, 604271 {Hypercholesterolemia, familial, modification of}, 143890 Increased responsiveness to growth hormone Proportionate Short Stature/Small for Gestational Age
Green GHR in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY DWARFISM II 262500
Red GHR in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Laron dwarfism, OMIM:262500 Growth hormone insensitivity, partial, OMIM:604271 Increased responsiveness to growth hormone, OMIM:604271
Green GHR in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Laron dwarfism, OMIM:262500