Inherited bleeding disorders

Gene: SRC

Green List (high evidence)

Comment on list classification: Changed from Red to Green. Two cases reported with functional evidence

Created: 20 Sep 2018, 10:35 a.m.

Gain of function reported by NIHRBR-RD

Created: 20 Sep 2018, 10:32 a.m.

New bleeding, platelet, coagulation and thrombotic disorder Tier 1 reportable gene from NIHRRD-BR BRIDGE project, announced at ISTH-SSC meeting Dublin 2018. From NIHRBR-RD BRIDGE project, reports a second case with de novo variant plus functional data.

Created: 20 Sep 2018, 10:31 a.m.

Comment on publications: PMID: 26936507 Evidence for one large family over 3 generations with thrombocytopenia-6. A heterozygous missense mutation was found in the SRC gene via exome sequencing which segregated with the disorder in the family. Studies of patient platelets and in vitro transfection studies indicated that the mutation resulted in constitutive activation of the SRC kinase in a dominant manner. These changes were associated with defective megakaryopoiesis and abnormal proplatelet formation.

Created: 23 Feb 2017, 10:57 a.m.

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