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  3. MAST2
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Bleeding and platelet disorders

Gene: MAST2

Red List (low evidence)
MAST2 (microtubule associated serine/threonine kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000086015
EnsemblGeneIds (GRCh37): ENSG00000086015
OMIM: 612257, Gene2Phenotype
MAST2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

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
Created: 31 Mar 2021, 1:28 p.m.
Last Modified: 31 Mar 2021, 1:28 p.m.
Panel version: 1.25

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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: Literature
Created: 5 Mar 2021, 6:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombophilia; venous thrombosis

Publications

Created: 5 Mar 2021, 6:25 a.m.

Panel version: 1.20

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
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

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mast2 has been classified as Red List (Low Evidence).

31 Mar 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAST2 were changed from Thrombophilia; venous thrombosis to Venous thromboembolism; Thrombophilia

5 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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