ACTG2, actin gamma 2, smooth muscle, 72

N. diseases: 154; N. variants: 3
Disease: Visceral Myopathy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease BEFREE The vast majority of cases are caused by dominant variants in ACTG2; however, the overall genetic architecture of visceral myopathy has not been well-characterized. 31769566 2020
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease BEFREE This study of the Actin G2 gene (ACTG2) in an African population explores a possible molecular basis abnormal muscle function in a visceral myopathy. 30430282 2019
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease BEFREE Thus, ACTG2 sequencing should be considered in cases presenting with hypoperistalsis phenotypes with suspected visceral myopathy. 29781137 2018
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 Biomarker disease BEFREE The observed phenotypes for these recessive variants were novel (e.g., FBN2-related myopathy and CSF1R-related brain malformation and osteopetrosis), typical (e.g., ACTG2-related visceral myopathy), or an apparently healthy state (e.g., PDE11A), consistent with the corresponding mouse knockout phenotypes. 28383543 2017
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		0.750 GeneticVariation disease BEFREE Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. 25782675 2015