Laterality disorders and isomerism
Gene: ACTG2

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Not a laterality defect.
Created: 2 Jun 2020, 8:09 a.m. | Last Modified: 2 Jun 2020, 8:09 a.m.

Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Visceral myopathy, MIM# 155310

Created: 2 Jun 2020, 8:09 a.m.
Last Modified: 2 Jun 2020, 8:09 a.m.
Panel version: 1.5

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: ACTG2; Suggested initial gene rating: Amber; Evidence for inclusion: none given; Evidence for exclusion: Atrial septal defect; not clear cause of isomerism; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

Created: 5 Dec 2018, 12:52 p.m.

Panel version: 0.2

Details

Sources

Expert Review Amber
NHS GMS

OMIM

102545

Clinvar variants

Variants in ACTG2

Penetrance

None

Panels with this gene

History Filter Activity

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to ACTG2. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTG2 was added gene: ACTG2 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACTG2 was set to

Laterality disorders and isomerism Gene: ACTG2