Growth failure in early childhood
Gene: STAT5BThe 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 both monoallelic and biallelic variants in this gene with growth hormone insensitivity resulting in severe short stature (MIM# 245590 and 618985). 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, 3:12 p.m. | Last Modified: 4 Jan 2023, 3:41 p.m.
Panel Version: 2.9
Review submitted on behalf of Helen Storr. Mode of inheritance: AR and heterozygous dominant negative (DN) defects described. Phenotypes: Growth hormone insenstivity - severe short stature, IGF-1 deficiency, midfacial hypoplasia, frontal bossing, severe immunodeficiency . Milder phenotype in heterozgous dominant negative cases. Publications: Well established rare cause of severe postnatal growth failure with life threatening immunodeficiency - first case described in 2003 and since then >10 mutations identified. DN mutations described in 2018 with 3 cases to date but likely many more if screened for. Mechansim: Disruption to GH signalling. Penetrance: Full penetrance.Created: 22 Dec 2022, 11:07 a.m. | Last Modified: 22 Dec 2022, 11:07 a.m.
Panel Version: 2.5
Mode of inheritance
BOTH monoallelic and 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: STAT5B. Tag Q1_23_expert_review was removed from gene: STAT5B.
Source Expert Review Green was added to STAT5B. Source NHS GMS was added to STAT5B. Rating Changed from Red List (low evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: STAT5B.
Publications for gene: STAT5B were set to
Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
Tag Q1_23_expert_review tag was added to gene: STAT5B.
Source Expert Review Red was added to STAT5B. Rating Changed from Green List (high evidence) to Red List (low evidence)
gene: STAT5B was added gene: STAT5B was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal