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Inborn errors of metabolism

Gene: MAT1A

Green List (high evidence)

MAT1A (methionine adenosyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 9 variants reported in Methionine adenosyltransferase deficiency, autosomal recessive and at least 1 variant in 2 unrelated cases of Methionine adenosyltransferase deficiency autosomal dominant.
Created: 17 Jan 2017, 4:15 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

Confirmed link to persistent metabolic abnormalities and not likely to be considered in first line metabolic testing and therefore appropriate for this panel
Created: 3 Jan 2017, 11:24 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
OMIM
610550
Clinvar variants
Variants in MAT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MAT1A. Source London North GLH was added to MAT1A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MAT1A was added gene: MAT1A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 27604308 Phenotypes for gene: MAT1A were set to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency