Monogenic short stature

Gene: GHR

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

Created: 31 Jan 2023, 5:28 p.m. | Last Modified: 31 Jan 2023, 5:28 p.m.

Panel Version: 2.33

There is sufficient evidence linking biallelic variants in this gene with Laron dwarfism (MIM# 262500). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.

Created: 4 Jan 2023, 2:33 p.m. | Last Modified: 4 Jan 2023, 2:33 p.m.

Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Laron dwarfism, OMIM:262500

Review submitted on behalf of Helen Storr. Mode of inheritance: AR. Phenotypes: Growth hormone insenstivity - severe short stature, IGF-1 deficiency, midfacial hypoplasia, frontal bossing. Publications: Well established - described in 1989 and since then more than 100 mutations in >400 people identified. Mechansim: Disruption to GH signalling. Penetrance: Full penetrance, This gene is currently on panel R159.1 pituitary hormone deficiency. It should be removed from this panel as it does not cause GH deficicncy - it is causes defective GH signalling .

Created: 22 Dec 2022, 11:07 a.m. | Last Modified: 22 Dec 2022, 11:07 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.