GHR

growth hormone receptor
OMIM: 600946, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GHR in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.59	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 1.30	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 Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.56 Latest signed off version: v4.0 (22 Mar 2023) 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
Red GHR in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes PITUITARY DWARFISM II
Red GHR in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY DWARFISM II 262500
Green GHR in Growth failure in early childhood Version 3.88 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Laron dwarfism, OMIM:262500
Red GHR in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) 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 Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Laron dwarfism, 262500 Increased responsiveness to growth hormone, 604271 Growth hormone insensitivity, partial, 604271