Cytopenia - NOT Fanconi anaemia
Gene: ADAMTS13
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: ADP receptor defect; Thrombotic Thrombocytopenia Purpura; Presents acutely with clearly recognisable red cell fragments - well known condition - NGS results would not arrive in time to help direct treatment; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Phenotypes for gene: ADAMTS13 were changed from Thrombotic thrombocytopenic purpura, familial, 274150 to Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Source Expert Review Amber was added to ADAMTS13. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source Expert review Amber was added to ADAMTS13.
Mode of inheritance for gene ADAMTS13 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Thrombotic thrombocytopenic purpura, familial, 274150 for gene: ADAMTS13
gene: ADAMTS13 was added gene: ADAMTS13 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: ADAMTS13 was set to