Laterality disorders and isomerism
Gene: ACTC1

ACTC1 (actin, alpha, cardiac muscle 1)
EnsemblGeneIds (GRCh38): ENSG00000159251
EnsemblGeneIds (GRCh37): ENSG00000159251
OMIM: 102540, Gene2Phenotype
ACTC1 is in 13 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Cannot find a specific link to laterality defects/heterotaxy.
Created: 2 Jun 2020, 8:08 a.m. | Last Modified: 2 Jun 2020, 8:08 a.m.

Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 5, MIM# 612794

Created: 2 Jun 2020, 8:08 a.m.
Last Modified: 2 Jun 2020, 8:08 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: ACTC1; Suggested initial gene rating: Amber; Evidence for inclusion: Visceral myopathy (intestinal malrotation); Evidence for exclusion: ?may be restricted to gut only; 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

102540

Clinvar variants

Variants in ACTC1

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 ACTC1. 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: ACTC1 was added gene: ACTC1 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACTC1 was set to

Laterality disorders and isomerism Gene: ACTC1