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  2. GMS Respiratory specialist test group Laterality disorders and isomerism
  3. ACTC1
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GMS Respiratory specialist test group Laterality disorders and isomerism

Gene: ACTC1

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

1 review

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 intial 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: 26 Nov 2018, 2:25 p.m.
Created: 26 Nov 2018, 2:25 p.m.

Panel version: 0.1

History Filter Activity

26 Nov 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)

26 Nov 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 GMS Respiratory specialist test group Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: ACTC1 was set to