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Intellectual disability syndromic and non-syndromic

Gene: MAT1A

Green List (high evidence)

MAT1A (methionine adenosyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

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. DD/ID can be seen in condition.
Created: 3 Oct 2024, 12:49 a.m. | Last Modified: 3 Oct 2024, 12:49 a.m.
Panel Version: 0.6303

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

5 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mat1a has been classified as Green List (High Evidence).

5 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAT1A were changed from 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

5 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAT1A were set to

5 Oct 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAT1A was added gene: MAT1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAT1A was set to Unknown