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Inherited bleeding disorders v1.158 ADAMTS13 Arina Puzriakova 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
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Added comment: Comment 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.
Inherited bleeding disorders v1.157 ADAMTS13 Arina Puzriakova Mode of inheritance for gene: ADAMTS13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders ADAMTS13 BRIDGE consortium reviewed ADAMTS13
Inherited bleeding disorders ADAMTS13 Louise Daugherty classified ADAMTS13 as green
Inherited bleeding disorders ADAMTS13 Louise Daugherty commented on ADAMTS13
Inherited bleeding disorders ADAMTS13 Neil Morgan added ADAMTS13 to panel
Inherited bleeding disorders ADAMTS13 Neil Morgan reviewed ADAMTS13