Miscellaneous Metabolic Disorders
Gene: MAT1AEnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association(see OMIM entry). Methionine adenosyltransferase deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of methionine metabolism.
Sources: NHS GMSCreated: 5 Feb 2021, 11:29 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850
- Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
- Disorders of the metabolism of sulphur amino acids
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mat1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: mat1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MAT1A was added gene: MAT1A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 27604308; 7560086 Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids Review for gene: MAT1A was set to GREEN gene: MAT1A was marked as current diagnostic