TMEM173

transmembrane protein 173
OMIM: 612374, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TMEM173 in COVID-19 research


Level 2: Viral research
Version 1.146

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2032
  • Expert Review Green
  • Expert list
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
  • Type 1 interferonopathies
  • Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC
  • Autoinflammatory Disorders
Tags
  • new-gene-name
Green TMEM173 in Rare genetic inflammatory skin disorders


Level 2: Dermatology
Version 4.16
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green TMEM173 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
  • Type 1 interferonopathies
  • Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC
  • Autoinflammatory Disorders
Tags
  • new-gene-name
Green TMEM173 in Vascular skin disorders


Level 2: Dermatology
Version 2.5
Latest signed off version: v2.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green TMEM173 in Autoinflammatory disorders


Level 2: Immunology
Version 2.35
Latest signed off version: v2.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name