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  2. Atypical Haemolytic Uraemic Syndrome_MPGN
  3. ADAMTS13
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Atypical Haemolytic Uraemic Syndrome_MPGN

Gene: ADAMTS13

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 13 Mar 2021, 5:07 a.m. | Last Modified: 13 Mar 2021, 5:07 a.m.
Panel Version: 0.6676

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150

Publications

Created: 13 Mar 2021, 5:07 a.m.
Last Modified: 13 Mar 2021, 5:07 a.m.
Panel version: Imported from Mendeliome panel version 0.6676

Chirag Patel (Genetic Health Queensland)

I don't know

The 2 main forms of thrombotic microangiopathy (TMA) are thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). Deficiency of ADAMTS13 and dysregulation of the complement pathway result in TTP and aHUS, respectively; however, overlap of their clinical characteristics makes differential diagnosis challenging. Therefore thought to be appropriate for the panel.
Created: 9 Jan 2020, 4:11 a.m. | Last Modified: 9 Jan 2020, 4:11 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic thrombocytopenic purpura, familial, OMIM #274150

Created: 9 Jan 2020, 4:11 a.m.
Last Modified: 9 Jan 2020, 4:11 a.m.
Panel version: 0.11

Details

Mode of Inheritance
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
OMIM
604134
Clinvar variants
Variants in ADAMTS13
Penetrance
None
Panels with this gene

History Filter Activity

14 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adamts13 has been classified as Amber List (Moderate Evidence).

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, OMIM #274150 to Thrombotic thrombocytopenic purpura, familial, OMIM #274150

14 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADAMTS13 were changed from to Thrombotic thrombocytopenic purpura, familial, OMIM #274150

14 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADAMTS13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: adamts13 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADAMTS13 was added gene: ADAMTS13 was added to Atypical Haemolytic Uraemic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAMTS13 was set to Unknown