Genomics England

transmembrane protein 173

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes STING-associated vasculopathy, infantile-onset, OMIM:615934
Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes STING-associated vasculopathy with onset in infancy, MONDO:0014405, STING-associated vasculopathy, infantile-onset, OMIM:615934
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	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 4.0	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 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes STING-associated vasculopathy, infantile-onset, OMIM:615934