THBD:Ensemblv115

thrombomodulin
OMIM: 188040, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green THBD in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bleeding disorder
Red THBD in Atypical Haemolytic Uraemic Syndrome_MPGN Level 2: Renal and urinary tract disorders Version 1.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Red Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 6} OMIM #612926 Tags refuted
Red THBD in Complement Deficiencies Level 2: Immunological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Red Expert Review Green Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926 Tags disputed
Red THBD in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Haemolytic uraemic syndrome
Green THBD in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Bleeding disorder