Thrombophilia with a likely monogenic cause
Gene: MAST2
MAST2 (microtubule associated serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000086015
EnsemblGeneIds (GRCh37): ENSG00000086015
OMIM: 612257, Gene2Phenotype
MAST2 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000086015
EnsemblGeneIds (GRCh37): ENSG00000086015
OMIM: 612257, Gene2Phenotype
MAST2 is in 2 panels
1 review
Arina Puzriakova (Genomics England Curator)
- PMID: 33465109 (2021) - Single missense variant (p.Arg89Gln) identified in a French family with venous thrombosis and thrombophilia. Missense variant reviewed by in silico tools only. MAST2 knockdown was shown to affect regulation of TFP1 and SERPINE1 gene expression, known to regulate the haemostatic properties of endothelial cells. RNAi of MAST2 followed by RNAseq also showed expression changes in many other downstream targets.
Sources: LiteratureCreated: 31 Mar 2021, 1:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Venous thromboembolism; Thrombophilia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Venous thromboembolism
- Thrombophilia
- OMIM
- 612257
- Clinvar variants
- Variants in MAST2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
31 Mar 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: MAST2 was added gene: MAST2 was added to Thrombophilia. Sources: Literature Mode of inheritance for gene: MAST2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAST2 were set to 33465109 Phenotypes for gene: MAST2 were set to Venous thromboembolism; Thrombophilia Review for gene: MAST2 was set to RED