Growth failure in early childhood
Gene: GHRThe 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
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.
Tag Q1_23_promote_green was removed from gene: GHR. Tag Q1_23_expert_review was removed from gene: GHR.
Source Expert Review Green was added to GHR. Source NHS GMS was added to GHR. Rating Changed from Red List (low evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: GHR.
Tag Q1_23_expert_review tag was added to gene: GHR.
Phenotypes for gene: GHR were changed from Laron syndrome to Laron dwarfism, OMIM:262500
Source Expert Review Red was added to GHR. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: GHR was added gene: GHR was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Laron syndrome