ADAMTS2:Ensemblv90

ADAM metallopeptidase with thrombospondin type 1 motif 2
OMIM: 604539, ClinGen, DECIPHER

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Green ADAMTS2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Green ADAMTS2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Green ADAMTS2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, type VIIC, 225410 (3)

Green ADAMTS2 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 1.4

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • International EDS Consortium
  • Expert Review Green
Phenotypes
  • Dermatosparaxis EDS
  • Ehlers Danlos syndrome, type VIIC, 225410

Red ADAMTS2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Ehlers-Danlos syndrome VIIc

Green ADAMTS2 in Prepair 1000+


Level 2: Screening
Version 2.15

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Red ADAMTS2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome VIIc

Green ADAMTS2 in Prepair 500+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
  • Mackenzie's Mission
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Green ADAMTS2 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Green ADAMTS2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, type VIIC, 225410 (3)

Green ADAMTS2 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • International EDS Consortium
  • Literature
  • Expert Review Green
Phenotypes
  • Dermatosparaxis EDS
  • Ehlers Danlos syndrome, type VIIC, 225410

Green ADAMTS2 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)

Green ADAMTS2 in Prepair 500+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)