GH1

growth hormone 1
OMIM: 139250, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green GH1 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	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 Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	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 IA, OMIM:262400 Growth hormone deficiency, isolated, type IB, OMIM:612781 Growth hormone deficiency, isolated, type II, OMIM:173100
No list GH1 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green GH1 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Growth hormone deficiency, isolated, type IA, OMIM:262400 Growth hormone deficiency, isolated, type IB, OMIM:612781 Growth hormone deficiency, isolated, type II, OMIM:173100 Growth hormone deficiency Kowarski syndrome, OMIM:262650