1. Panels
  2. Bleeding and Platelet Disorders
  3. MAT2A
STRs in panel
Prev Next
Regions in panel
Prev Next

Bleeding and Platelet Disorders

Gene: MAT2A

Amber List (moderate evidence)
MAT2A (methionine adenosyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000168906
EnsemblGeneIds (GRCh37): ENSG00000168906
OMIM: 601468, Gene2Phenotype
MAT2A is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families reported only.
Created: 15 Aug 2020, 4:04 a.m. | Last Modified: 15 Aug 2020, 4:04 a.m.
Panel Version: 0.103

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm

Publications

Created: 15 Aug 2020, 4:04 a.m.
Last Modified: 15 Aug 2020, 4:04 a.m.
Panel version: 0.103

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Thoracic aortic aneurysm
OMIM
601468
Clinvar variants
Variants in MAT2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mat2a has been classified as Amber List (Moderate Evidence).

15 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAT2A were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm

15 Aug 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAT2A were changed from to Thoracic aortic aneurysm

15 Aug 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAT2A were set to

15 Aug 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

15 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mat2a has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAT2A was added gene: MAT2A was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MAT2A was set to Unknown