Inherited bleeding disorders
Gene: ADAMTS13Comment on mode of inheritance: Changed MOI from 'BOTH monoallelic and biallelic' to 'BIALLELIC' - only biallelic cases with homozygous or compound heterozygous variants described. Heterozygous carriers are asymptomatic.Created: 23 Mar 2021, 11:39 a.m. | Last Modified: 23 Mar 2021, 11:39 a.m.
Panel Version: 1.157
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
Comment on phenotypes: added phenotype from expert reviewCreated: 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 variantsCreated: 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 casesCreated: 1 Jun 2017, 1:36 p.m.
Comment on publications: added publication suggested by external reviewerCreated: 1 Jun 2017, 1:23 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Congenital Thrombotic Thrombocytopenic Purpura, or Schulman-Upshaw Syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: ADAMTS13 were changed from Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP; Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for ADAMTS13 were set to Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP;Thrombotic disorder; Thrombotic thrombocytopenic purpura, familial
Mode of pathogenicity for ADAMTS13 was changed to Other - please provide details in the comments
Mode of pathogenicity for ADAMTS13 was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
Publications for ADAMTS13 were set to 11586351; 14512317; 12181489; 14512317; 6433703; 15521921
Publications for ADAMTS13 were set to 11586351; 14512317;12181489;14512317; 6433703; 15521921;
Publications for ADAMTS13 were set to 11586351;
Phenotypes for ADAMTS13 were set to Congenital Thrombotic Thrombocytopenic Purpura; Schulman-Upshaw Syndrome; Familial thrombotic thrombocytopenic purpura; TTP
ADAMTS13 was added to Inherited bleeding disorderspanel. Sources: Research
ADAMTS13 was created by nvmorgan