1. Panels
  2. GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
  3. ACTA2
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GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH

Gene: ACTA2

Green List (high evidence)
ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 13 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: ACTA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? not submitted; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Cerebral vascular malformations
Created: 27 Feb 2019, 3:14 p.m.
Created: 27 Feb 2019, 3:14 p.m.

Panel version: 0.6

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.
Created: 27 Feb 2019, 2:22 p.m.

Panel version: 0.5

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 ACTA2. 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 ACTA2.

27 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: ACTA2 was set to