TMEM173

transmembrane protein 173
OMIM: 612374, Gene2Phenotype

6 panels

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


Level 2: Viral research
Version 1.141

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


Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

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


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

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


Version 1.63
Latest signed off version: v1.3 (15 Oct 2020)

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 Severe Paediatric Disorders


Version 1.184

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green TMEM173 in Autoinflammatory disorders

Level 3: Primary immunodeficiency disorders
Level 2: Haematological disorders
Version 1.17
Latest signed off version: v1.0 (30 Nov 2022)

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