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Fetal anomalies

Gene: GH1

Red List (low evidence)
GH1 (growth hormone 1)
EnsemblGeneIds (GRCh38): ENSG00000259384
EnsemblGeneIds (GRCh37): ENSG00000259384
OMIM: 139250, Gene2Phenotype
GH1 is in 5 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

This gene was on the 100k IUGR panel. Not on Australian FA panel.In contrast to IGF1 and IGF2, GH has a minor impact on fetal development and growth and deficiency presents postnatally (https://www.ncbi.nlm.nih.gov/books/NBK343487/)One report of a de novo heterozygous GH1 missense variant, c.414C>A p.Asp138Glu, in a fetus with growth restriction; classified as VUS (41073961).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type IA, OMIM:262400

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Growth hormone deficiency, isolated, type II, OMIM:173100
  • Growth hormone deficiency, isolated, type IB, OMIM:612781
  • Growth hormone deficiency, isolated, type IA, OMIM:262400
OMIM
139250
Clinvar variants
Variants in GH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: GH1 was added gene: GH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GH1 were set to 24497717; 41073961 Phenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type II, OMIM:173100; Growth hormone deficiency, isolated, type IB, OMIM:612781; Growth hormone deficiency, isolated, type IA, OMIM:262400