Gastrointestinal neuromuscular 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 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from red to green due to expert review, and more than 10 cases/family reports in OMIM for different heterozygous variants identified in Visceral myopathy (which includes psuedo obstruction as a phenotype).
19 Oct 2016, 10:31 a.m.

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Visceral myopathy 155310
OMIM
102545
Clinvar variants
Variants in ACTG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 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).

31 Aug 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ACTG2 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: Literature

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ACTG2 was created by sleigh