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Fetal anomalies

Gene: STAT3

Amber List (moderate evidence)
STAT3 (signal transducer and activator of transcription 3)
EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 17 panels

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

De novo pathogenic variant detected postnatally in a neonate with thrombocytopenia and hyperinsulinemic hypoglycemia; prenatal phenotyppe: short long bones, microcephaly, possible arthrogryposis and possible ventricular septal defect.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818; autoimmune disease, multisystem, infantile-onset, MONDO:0000213

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Green on lots of panels; Very rarely diagnosed prenatally. PMID:30617622 - Two Prenatal Cases of Hyper-IgE Syndrome; PMID:31771449 - Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated WithSTAT3 Mutation - in utero onset of precocious lymphocyte maturation, autoimmune enteropathy-like inflammation, and proximal renal tubular dysplasia (single case); PMID:34366294 - can't see prenatal findings in this. Can't find enough cases to warrant green. Amber - need clear prenatal presentation
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • autoimmune disease, multisystem, infantile-onset, MONDO:0000213
  • Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060
  • Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
  • hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818
  • Hyper-IgE recurrent infection syndrome, OMIM:147060
OMIM
102582
Clinvar variants
Variants in STAT3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Added phenotypes Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections, OMIM:147060; Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; hyper-IgE recurrent infection syndrome 1, autosomal dominant, MONDO:0007818; autoimmune disease, multisystem, infantile-onset, MONDO:0000213 for gene: STAT3

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STAT3 was added gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 31771449; 34366294; 30617622 Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060