THBD

thrombomodulin
OMIM: 188040, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green THBD in COVID-19 research Level 2: Viral research Version 1.141	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 GRID V2.0 Victorian Clinical Genetics Services ESID Registry 20171117 IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Complement Deficiencies Thrombomodulin deficiency Hemolytic uremic syndrome, atypical, susceptibility to, 6 Atypical hemolytic-uremic syndrome
Red THBD in Atypical haemolytic uraemic syndrome Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 Thrombophilia due to thrombomodulin defect 614486 Tags multifactorial
Green THBD in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.177	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Thrombomodulin deficiency Thrombophilia Due To Thrombomodulin Defect Thrombophilia due to thrombomodulin defect 614486
Red THBD 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 IUIS Classification December 2019 Expert Review Red IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 Atypical hemolytic-uremic syndrome Complement Deficiencies Thrombomodulin deficiency
Green THBD in Thrombophilia with a likely monogenic cause Version 2.5 Latest signed off version: v2.2 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Thrombophilia due to thrombomodulin defect, OMIM:614486
Green THBD in Bleeding and platelet disorders Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes AD bleeding disorder 614486 Thrombophilia due to thrombomodulin defect
Green THBD 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 Thrombophilia due to thrombomodulin defect, 614486