ADAMTS13

ADAM metallopeptidase with thrombospondin type 1 motif 13
OMIM: 604134, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green ADAMTS13 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Tags
  • treatable

Green ADAMTS13 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150
Tags
  • treatable

Amber ADAMTS13 in Atypical Haemolytic Uraemic Syndrome_MPGN


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, OMIM #274150

Green ADAMTS13 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, 274150 (3)

Green ADAMTS13 in Stroke


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary MIM#274150
Tags
  • treatable

Green ADAMTS13 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial

Green ADAMTS13 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM#274150

Green ADAMTS13 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, MIM#274150
Tags
  • treatable
  • haematological

Green ADAMTS13 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150