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  3. ACTG2
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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 9 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).
Created: 19 Oct 2016, 10:31 a.m.
Created: 19 Oct 2016, 10:31 a.m.

Panel version: 0.57

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

Created: 12 Oct 2016, 7:10 a.m.

Panel version: 0.25

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

Created

Sarah Leigh (Genomics England Curator)

ACTG2 was created by sleigh

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