Bleeding and Platelet Disorders
Gene: MAST2EnsemblGeneIds (GRCh38): ENSG00000086015
EnsemblGeneIds (GRCh37): ENSG00000086015
OMIM: 612257, Gene2Phenotype
MAST2 is in 2 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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
Sources: LiteratureCreated: 1 Mar 2021, 4:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Thrombophilia; venous thrombosis
Publications
- PMID: 33465109
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Thrombophilia
- venous thrombosis
- OMIM
- 612257
- Clinvar variants
- Variants in MAST2
- Penetrance
- None
- Publications
-
- PMID: 33465109
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: mast2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: mast2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)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, imprinted status unknown Publications for gene: MAST2 were set to PMID: 33465109 Phenotypes for gene: MAST2 were set to Thrombophilia; venous thrombosis Review for gene: MAST2 was set to RED