PanelApp (staging)
  1. Genes and Genomic Entities
  2. THBD

THBD

thrombomodulin
OMIM: 188040, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green THBD in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bleeding disorder

Green THBD in Mendeliome


Version 1.2302

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926
  • Bleeding disorder

Amber THBD in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 0.53

Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}
    • OMIM #612926

    Red THBD in Complement Deficiencies


    Level 2: Immunological disorders
    Version 0.74

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926

    Red THBD in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Haemolytic uraemic syndrome

    Red THBD in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Haemolytic uraemic syndrome

    Green THBD in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Bleeding disorder