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  2. Aortopathy_Connective Tissue Disorders
  3. MAT2A
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Aortopathy_Connective Tissue 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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 25557781 - A rare missense (p.Glu344Ala) identified in a family that segregated with thoracic aortic disease and a second missense was identified in an unrelated thoracic aortic disease proband. Morpholino KO in zebrafish lead to pericardial edema and rescue by human MAT2A
PMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of additional variants identified in a large (>400) unpublished aortopathy cohort. Categorised as uncertain, because it is a recently reported gene-disease association.
Sources: ClinGen
Created: 13 Jul 2020, 5:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thoracic aortic aneurysm

Publications

Created: 13 Jul 2020, 5:46 a.m.

Panel version: 0.155

Details

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

History Filter Activity

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Jul 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MAT2A was added gene: MAT2A was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen Mode of inheritance for gene: MAT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAT2A were set to 30071989; 25557781 Phenotypes for gene: MAT2A were set to Thoracic aortic aneurysm Review for gene: MAT2A was set to AMBER