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  2. Unexplained kidney failure in young people
  3. ACTG2
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Unexplained kidney failure in young people

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

1 review

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: 0.150

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 17th August 2016

4 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

4 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for ACTG2 were set to 25998219

26 Jun 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for ACTG2 were set to Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310

18 May 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ACTG2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Green

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACTG2 was created by sleigh