Genomics England
GMS Panels
Panels
Genes and Entities

TMEM173

transmembrane protein 173
OMIM: 612374
PanelMode of inheritanceDetails
4 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
STING-associated vasculopathy, infantile-onset, OMIM:615934
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 6.12
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
STING-associated vasculopathy, infantile-onset, OMIM:615934, Type 1 interferonopathies, Skin vasculopathy, inflammatory lung disease, systemic autoinflammation and ICC, Autoinflammatory Disorders
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STING-associated vasculopathy, infantile-onset, OMIM:615934
Green
in Vascular skin disorders
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
STING-associated vasculopathy