Monogenic short stature

Gene: GH1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 11 Dec 2025, 1:25 p.m. | Last Modified: 11 Dec 2025, 1:25 p.m.

Panel Version: 1.27

Green List (high evidence)

Numerous GH1 variants have been associated with 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 (PMID: 8496314; 8288694; 8552145; 10689634, 18554279; 17726075).

Created: 1 Apr 2025, 4:22 p.m. | Last Modified: 1 Apr 2025, 4:22 p.m.

Panel Version: 1.15

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 8496314
• 8288694
• 8552145
• 10689634
• 18554279
• 17726075

Green List (high evidence)

The phenotype associated with this gene is isolated growth hormone deficiency and the only panel on the NHSE TD that this gene is available on R159 Pituitary Hormone Deficiency which has acceptance criteria of two or more hormone deficiencies. Therefore if a clinician wants to get access to testing for this gene it puts us at the GLH in a difficult position about whether to accept a referral. Therefore GH1 should be on this panel.

Created: 17 Feb 2025, 11:06 a.m. | Last Modified: 17 Feb 2025, 11:06 a.m.

Panel Version: 1.1

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

Phenotypes
Growth hormone deficiency; Kowarski syndrome

Green List (high evidence)

This is an established disease gene associated with isolated growth hormone deficiency (MIM:262400; 173100). GH1 should be green on this panel to allow inclusion on the GMS PanelApp R453 "Monogenic short stature" panel. This gene is currently only available on the R159 "Pituitary Hormone Deficiency" panel, which requires "biochemical evidence of deficiency of at least two pituitary hormones of neonatal or childhood onset".

Created: 27 Sep 2024, 8:48 a.m. | Last Modified: 27 Sep 2024, 8:48 a.m.

Panel Version: 1.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth hormone deficiency

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.

Created: 30 May 2019, 9:49 a.m.