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Gene: ADAMTS13

Green List (high evidence)

ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)
EnsemblGeneIds (GRCh38): ENSG00000160323
EnsemblGeneIds (GRCh37): ENSG00000160323
OMIM: 604134, Gene2Phenotype
ADAMTS13 is in 9 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Severe, usually congenital/childhood onset condition however some cases of adult onset have been reported.
Created: 17 Sep 2024, 3:40 a.m. | Last Modified: 17 Sep 2024, 3:40 a.m.
Panel Version: 1.304

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic thrombocytopenic purpura, hereditary, MIM#274150

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, MIM#274150
OMIM
604134
Clinvar variants
Variants in ADAMTS13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: adamts13 has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 (3) to Thrombotic thrombocytopenic purpura, hereditary, MIM#274150

18 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ADAMTS13 were set to 16796708; 34702267

18 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ADAMTS13 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS13 was added gene: ADAMTS13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)