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  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. TMEM173
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Pulmonary Fibrosis_Interstitial Lung Disease

Gene: TMEM173

Green List (high evidence)
TMEM173 (transmembrane protein 173)
EnsemblGeneIds (GRCh38): ENSG00000184584
EnsemblGeneIds (GRCh37): ENSG00000184584
OMIM: 612374, Gene2Phenotype
TMEM173 is in 7 panels

2 reviews

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

Looked into the papers from the previous review and found both only described dominant case studies. I think the paper meant to be referenced was PMID: 32673614 which describes 6 individuals from 4 families with severe interstitial lung disease who have a homozygous STING1 (TMEM173) variant. All families have the same variant p.Arg281Trp, which is homozygous in all affected children and heterozygous in their unaffected parents.
Created: 14 Feb 2022, 12:11 a.m. | Last Modified: 14 Feb 2022, 12:11 a.m.
Panel Version: 0.40

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 14 Feb 2022, 12:11 a.m.
Last Modified: 14 Feb 2022, 12:11 a.m.
Panel version: 0.40

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals reported with severe interstitial lung disease in the setting of STING-associated vasculopathy.
Sources: Expert Review
Created: 7 Sep 2020, 9:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
STING-associated vasculopathy, infantile-onset, MIM# 615934

Publications

Created: 7 Sep 2020, 9:37 a.m.

Panel version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • STING-associated vasculopathy, infantile-onset, MIM# 615934
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM173 were set to 27613991; 32398023

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem173 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem173 has been classified as Green List (High Evidence).

7 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM173 was added gene: TMEM173 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Mode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM173 were set to 27613991; 32398023 Phenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM# 615934 Review for gene: TMEM173 was set to GREEN