Aminoacidopathy
Gene: MAT1AEnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 8 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Well established gene-disease association. Dominant negative appears to be the mechanism of disease.
Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 13/09/2019 - https://search.clinicalgenome.org/CCID:005340
Sources: ClinGenCreated: 19 Jun 2024, 5:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
methionine adenosyltransferase deficiency MONDO:0009607
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- methionine adenosyltransferase deficiency MONDO:0009607
- OMIM
- 610550
- Clinvar variants
- Variants in MAT1A
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mat1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mat1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: MAT1A was added gene: MAT1A was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 9042912; 11320206 Phenotypes for gene: MAT1A were set to methionine adenosyltransferase deficiency MONDO:0009607 Mode of pathogenicity for gene: MAT1A was set to Other Review for gene: MAT1A was set to GREEN