Monogenic Diabetes
Gene: STAT1

STAT1 (signal transducer and activator of transcription 1)
EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels

1 review

Hali Van Niel (University of Melbourne)

I don't know

STAT1 associated with 3 types of immonodeficiencies
Immonodeficiency 31A (AD, LoF), Immonodeficiency 31B (AR, LoF) and
Immonodeficiency 31C (autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome), AD, GoF variants in STAT1

23534974: 5 patients w GOF mutation in STAT1, 3 developed type 1 diabetes mellitus
33027576: 1 patient with type 1 diabetes

Well established gene disease association, type 1 diabetes mellitus may present with disease
Created: 2 May 2024, 6:43 a.m. | Last Modified: 2 May 2024, 6:43 a.m.

Panel Version: 0.74

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599

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

Created: 2 May 2024, 6:43 a.m.
Last Modified: 2 May 2024, 6:43 a.m.
Panel version: 0.74

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Expert Review

Phenotypes

autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599

OMIM

600555

Clinvar variants

Variants in STAT1

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