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  3. TMEM173
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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

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Gain-of-function-variants.
At least 10 unrelated families reported with chILD.
Created: 6 Nov 2021, 11:54 a.m. | Last Modified: 6 Nov 2021, 11:54 a.m.
Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM# 615934 - STING associated vasculopathy with onset in infancy (SAVI) - chILD, pulmonary fibrosis

Publications

Mode of pathogenicity
Other

Created: 6 Nov 2021, 11:54 a.m.
Last Modified: 6 Nov 2021, 11:54 a.m.
Panel version: 0.183

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

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

Panel version: 0.311

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • STING-associated vasculopathy, infantile-onset, MIM# 615934
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM173 were set to 27613991; 32398023

8 Nov 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: TMEM173 was changed from to Other

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Oct 2021, 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).

19 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934

19 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM173 were set to

19 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM173 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM173 was added gene: TMEM173 was added to Interstitial Lung Disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM173 was set to Unknown