Bleeding and platelet disordersGene: MAST2
Comment on list classification: Rating Red as only a single family reported at this time (PMID:33465109)
Created: 31 Mar 2021, 1:28 p.m. | Last Modified: 31 Mar 2021, 1:28 p.m.
Panel Version: 1.25
Single missense identified in a family with venous thrombosis and thrombophilia. Missense variant reviewed by in silicos only. Shown to affect regulation of TFP1 and SERPINE1 gene expression.
RNAi of MAST2 followed by RNAseq showed expression changes in many downstream targets.
Created: 5 Mar 2021, 6:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thrombophilia; venous thrombosis
Gene: mast2 has been classified as Red List (Low Evidence).
Phenotypes for gene: MAST2 were changed from Thrombophilia; venous thrombosis to Venous thromboembolism; Thrombophilia
gene: MAST2 was added gene: MAST2 was added to Bleeding and platelet disorders. Sources: Literature Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST2 were set to 33465109 Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis Review for gene: MAST2 was set to RED