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  2. Renal and urinary tract disorders
  3. ACTG2
STRs in panel
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Renal and urinary tract disorders

Gene: ACTG2

Green List (high evidence)
ACTG2 (actin, gamma 2, smooth muscle, enteric)
EnsemblGeneIds (GRCh38): ENSG00000163017
EnsemblGeneIds (GRCh37): ENSG00000163017
OMIM: 102545, Gene2Phenotype
ACTG2 is in 9 panels

3 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 5 Nov 2017, 2:37 a.m.

Panel version: Imported from CAKUT panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM not in G2P. Numerous variants reported
Created: 4 Aug 2016, 9:58 a.m.
Created: 4 Aug 2016, 9:58 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.150

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally; multiple different variants in unrelated cases reported for visceral myopathy which in OMIM includes the phenotypes Hydronephrosis, Vesicoureteral reflux and Urinary retention Megacystis.
Created: 25 Apr 2016, 2:09 p.m.
Comment on list classification: The gene is associated with Visceral myopathy in OMIM, which includes Urinary retention Megacystis, Hydronephrosis and Vesicoureteral reflux.
Created: 22 Apr 2016, 11:10 a.m.
Created: 22 Apr 2016, 11:05 a.m.

Panel version: Imported from CAKUT panel version 0.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • visceral myopathy
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • Berdon syndrome
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Comment on list classification

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 for gene: ACTG2

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ACTG2 was added gene: ACTG2 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTG2 were set to PMID: 25998219 Phenotypes for gene: ACTG2 were set to visceral myopathy; Megacystis-microcolon intestinal hypoperistalsis syndrome; Berdon syndrome