Growth failure in early childhood
Gene: STAT5B

STAT5B (signal transducer and activator of transcription 5B)
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

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

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

Created: 22 Dec 2022, 11:07 a.m.
Last Modified: 22 Dec 2022, 11:07 a.m.
Panel version: 2.5

Rebecca Foulger (Genomics England curator)

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.

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

Panel version: 0.23

Details

Mode of Inheritance

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

Sources

NHS GMS
Expert Review Green

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

2 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: STAT5B. Tag Q1_23_expert_review was removed from gene: STAT5B.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

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)

4 Jan 2023, Gel status: 1