Monogenic short stature
Gene: STAT5B
STAT5B (signal transducer and activator of transcription 5B)
EnsemblGeneIds (GRCh38): ENSG00000173757
EnsemblGeneIds (GRCh37): ENSG00000173757
OMIM: 604260, Gene2Phenotype
STAT5B is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000173757
EnsemblGeneIds (GRCh37): ENSG00000173757
OMIM: 604260, Gene2Phenotype
STAT5B is in 8 panels
4 reviews
Catherine Snow (Genomics England)
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
Arina Puzriakova (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
Rebecca Foulger (Genomics England curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590
- Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
- OMIM
- 604260
- Clinvar variants
- Variants in STAT5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: STAT5B was added gene: STAT5B was added to Monogenic short stature. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT5B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: STAT5B were set to 16787985; 15827093; 17030597; 26703237; 29844444 Phenotypes for gene: STAT5B were set to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985