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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: MAT2A

Green List (high evidence)

MAT2A (methionine adenosyltransferase 2A)
EnsemblGeneIds (GRCh38): ENSG00000168906
EnsemblGeneIds (GRCh37): ENSG00000168906
OMIM: 601468, Gene2Phenotype
MAT2A is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: MAT2A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Red in ClinGen_Familial thoracic aortic aneurysm and aortic dissection PanelApp
Created: 27 Feb 2019, 3:14 p.m.

Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)

Green List (high evidence)

Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.
Created: 27 Feb 2019, 2:22 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
OMIM
601468
Clinvar variants
Variants in MAT2A
Penetrance
None
Panels with this gene

History Filter Activity

27 Feb 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MAT2A. Rating Changed from Red List (low evidence) to Green List (high evidence)

27 Feb 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MAT2A.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MAT2A was added gene: MAT2A was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: MAT2A was set to