Monogenic Diabetes
Gene: STAT3EnsemblGeneIds (GRCh38): ENSG00000168610
EnsemblGeneIds (GRCh37): ENSG00000168610
OMIM: 102582, Gene2Phenotype
STAT3 is in 14 panels
1 review
Hali Van Niel (University of Melbourne)
STAT3 associated with two different phenotypes; Hyper-immunoglobulin (Ig) E recurrent infection syndrome (loss of function, AR) and STAT3-associated infantile-onset multisystem autoimmune disease (gain of function, AD)
STAT3-associated infantile-onset multisystem autoimmune disease may present with diabetes mellitus in juvenile
25038750: 5 unrelated patients with STAT3 mutation and 4 with type 1 diabetes mellitus
25359994: 10 unrelated patients, 2 of which had type 1 diabetes mellitus
38020118: 1 person with STAT3 and type 1 diabetes mellitus
Review (30825606) report 20% of the published STAT3 GOF patients have developed early onset diabetes.Created: 2 May 2024, 6:14 a.m. | Last Modified: 2 May 2024, 6:14 a.m.
Panel Version: 0.74
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
- OMIM
- 102582
- Clinvar variants
- Variants in STAT3
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Disorders of immune dysregulation
- Craniosynostosis
- Combined Immunodeficiency
- Fetal anomalies
- Additional findings_Paediatric
- Monogenic Diabetes
- Autoimmune Lymphoproliferative Syndrome
- Susceptibility to Fungal Infections
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Interstitial Lung Disease
- Genetic Epilepsy
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stat3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STAT3 were changed from to STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: STAT3 were set to 25038750; 27167055
Created, Added New Source, Set mode of inheritance, Set publications, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STAT3 was added gene: STAT3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: STAT3 were set to 25038750; 27167055 Mode of pathogenicity for gene: STAT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments