Laterality disorders and isomerismGene: ACTC1
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
Atrial septal defect 5, MIM# 612794
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.
Source Expert Review Amber was added to ACTC1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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