Childhood interstitial lung disease
Gene: TMEM173EnsemblGeneIds (GRCh38): ENSG00000184584
EnsemblGeneIds (GRCh37): ENSG00000184584
OMIM: 612374, Gene2Phenotype
TMEM173 is in 6 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
TMEM173 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
The 'new-gene-name' tag has been added as the official HGNC gene symbol for TMEM173 is STING1.Created: 30 Dec 2025, 7:38 p.m. | Last Modified: 30 Dec 2025, 7:38 p.m.
Panel Version: 0.2
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #615934) 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
STING-associated vasculopathy, infantile-onset, OMIM:615934; STING-associated vasculopathy with onset in infancy, MONDO:0014405
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- STING-associated vasculopathy with onset in infancy, MONDO:0014405
- STING-associated vasculopathy, infantile-onset, OMIM:615934
- Tags
- OMIM
- 612374
- Clinvar variants
- Variants in TMEM173
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag new-gene-name tag was added to gene: TMEM173.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TMEM173 was added gene: TMEM173 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy, MONDO:0014405; STING-associated vasculopathy, infantile-onset, OMIM:615934