Inherited bleeding disorders

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 6 panels

3 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from expert review
Created: 9 Aug 2017, 12:54 p.m.
Comment on mode of pathogenicity: changed loss-of-function variants exception, since loss of function tier 1 transcript_ablation, splice_donor_variant, splice_acceptor_variant, stop_gained, frameshift_variant, stop_lost or initiator_codon_variant/start_lost) variants are pathogenic in this gene.
Created: 1 Jun 2017, 1:44 p.m.
Comment on list classification: Expert review green, and multiple cases reported with different variants
Created: 1 Jun 2017, 1:41 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases
Created: 1 Jun 2017, 1:36 p.m.
Comment on publications: added publication suggested by external reviewer
Created: 1 Jun 2017, 1:23 p.m.

Neil Morgan (University of Birmingham)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital Thrombotic Thrombocytopenic Purpura, or Schulman-Upshaw Syndrome

Publications

  • Levy, G. G., Nichols, W. C., Lian, E. C., Foroud, T., McClintick, J. N., McGee, B. M., Yang, A. Y., Slemieniak, D. R., Stark, K. R., Gruppo, R., Sarode, R., Shurin, S. B., Chandrasekaran, V., Stabler, S. P., Sabio, H., Bouhassira, E. E., Upshaw, J. D., Jr., Ginsburg, D., Tsai, H.-M. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 413: 488-494, 2001.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Thrombotic Thrombocytopenic Purpura
  • Schulman-Upshaw Syndrome
  • Familial thrombotic thrombocytopenic purpura
  • TTP
  • Thrombotic disorder
  • Thrombotic thrombocytopenic purpura, familial
OMIM
604134
Clinvar variants
Variants in ADAMTS13
Penetrance
Complete
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADAMTS13 were set to Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP;Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial

1 Jun 2017, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for ADAMTS13 was changed to Other - please provide details in the comments

1 Jun 2017, Gel status: 4

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for ADAMTS13 was changed to Other - please provide details in the comments

1 Jun 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS13 were set to 11586351; 14512317; 12181489; 14512317; 6433703; 15521921

1 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS13 were set to 11586351; 14512317;12181489;14512317; 6433703; 15521921;

1 Jun 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ADAMTS13 were set to 11586351;

1 Jun 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ADAMTS13 were set to Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP

31 Mar 2017, Gel status: 0

Added New Source

Neil Morgan (University of Birmingham)

ADAMTS13 was added to Inherited bleeding disorderspanel. Sources: Research

31 Mar 2017, Gel status: 0

Created

Neil Morgan (University of Birmingham)

ADAMTS13 was created by nvmorgan