GH1

growth hormone 1
OMIM: 139250, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green GH1 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.69	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Growth hormone deficiency
Green GH1 in Pituitary hormone deficiency Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Growth hormone deficiency, isolated, type II (173100) Growth hormone deficiency, isolated, type IA (262400) Growth hormone deficiency, isolated, type IB (612781)
No list GH1 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 Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Red GH1 in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Growth hormone deficiency
Green GH1 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 Growth hormone deficiency, isolated, type IA, 262400 Kowarski syndrome, 262650 Growth hormone deficiency, isolated, type IB, 612781 Growth hormone deficiency, isolated, type II, 173100