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  2. Disorders of immune dysregulation
  3. TMEM173
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Disorders of immune dysregulation

Gene: TMEM173

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four families reported.
Sources: Expert list
Created: 5 Apr 2020, 9:14 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Mode of pathogenicity
Other

Created: 5 Apr 2020, 9:14 a.m.

Panel version: Imported from Systemic Autoinflammatory Disease_Periodic Fever panel version 0.15

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Expert list
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
612374
Clinvar variants
Variants in TMEM173
Penetrance
None
Panels with this gene

History Filter Activity

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 Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TMEM173 was set to Unknown