GHR

growth hormone receptor
OMIM: 600946, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green GHR in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500
Red GHR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500
Green GHR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes increased responsiveness to growth hormone 604271 {Hypercholesterolemia, familial, modification of}, 143890 Short stature, 604271 Proportionate Short Stature/Small for Gestational Age Growth hormone insensitivity Increased responsiveness to growth hormone Laron dwarfism, 262500
Green GHR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Laron dwarfism, 262500 (3)
Green GHR in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone insensitivity, partial (604271) Increased responsiveness to growth hormone (604271) Laron dwarfism (262500)
Green GHR in Growth failure Version 1.76	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500
Green GHR in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Growth hormone insensitivity, partial, MIM#604271 Laron dwarfism, MIM#262500
Green GHR in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Laron dwarfism, MIM#262500
Green GHR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500 Tags treatable endocrine
Green GHR in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Laron dwarfism, 262500 (3)