MAT2A

methionine adenosyltransferase 2A
OMIM: 601468, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber MAT2A in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • Thoracic aortic aneurysm

Amber MAT2A in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Thoracic aortic aneurysm

Amber MAT2A in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Thoracic aortic aneurysm