CAKUT

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 10 panels

2 reviews

Helen Stuart (University of Manchester)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • visceral myopathy
  • Berdon syndrome
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Apr 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACTG2 were set to PMID: 25998219

22 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

22 Apr 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

16 Oct 2015, Gel status: 0

Added New Source

Helen Stuart (University of Manchester)

ACTG2 was added to CAKUTpanel. Sources: Expert Review