Pneumothorax - familial

Gene: ACTA2

Red List (low evidence)

ACTA2 (actin, alpha 2, smooth muscle, aorta)
EnsemblGeneIds (GRCh38): ENSG00000107796
EnsemblGeneIds (GRCh37): ENSG00000107796
OMIM: 102620, Gene2Phenotype
ACTA2 is in 14 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: ACTA2; Suggested initial gene rating: Amber; Evidence for inclusion: FTAA gene; Non-specific lung disease on OMIM; Evidence for exclusion: Pneumothorax appears to be a rare/unassociated feature.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 2:37 p.m.

History Filter Activity

6 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTA2 was added gene: ACTA2 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: ACTA2 was set to