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  2. Dystonia - complex
  3. MAT1A
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Dystonia - complex

Gene: MAT1A

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with dystonia a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 1:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850

Publications

Created: 6 Apr 2020, 1:54 a.m.

Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850
OMIM
610550
Clinvar variants
Variants in MAT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mat1a has been classified as Red List (Low Evidence).

6 Apr 2020, Gel status: 1

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 Dystonia - complex. Sources: Expert list Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 8770875 Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Review for gene: MAT1A was set to RED