Childhood interstitial lung disease
Gene: STAT1EnsemblGeneIds (GRCh38): ENSG00000115415
EnsemblGeneIds (GRCh37): ENSG00000115415
OMIM: 600555, Gene2Phenotype
STAT1 is in 10 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
STAT1 has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614162) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162; autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162
- autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599
- OMIM
- 600555
- Clinvar variants
- Variants in STAT1
- Penetrance
- None
- Panels with this gene
-
- Monogenic diabetes
- Childhood interstitial lung disease
- Intellectual disability
- COVID-19 research
- Gastrointestinal epithelial barrier disorders
- Fetal anomalies
- Familial diabetes
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: STAT1 was added gene: STAT1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STAT1 were set to Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, OMIM:614162; autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, MONDO:0013599