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Severe Paediatric Disorders

Gene: MAT1A

Green List (high evidence)

MAT1A (methionine adenosyltransferase 1A)
EnsemblGeneIds (GRCh38): ENSG00000151224
EnsemblGeneIds (GRCh37): ENSG00000151224
OMIM: 610550, Gene2Phenotype
MAT1A is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MAT1A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3) | Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Methionine adenosyltransferase deficiency, autosomal recessive, 250850
  • Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850
OMIM
610550
Clinvar variants
Variants in MAT1A
Penetrance
None
Publications
Panels with this gene