Laterality disorders and isomerism

Gene: MYH6

Comment on phenotypes: This gene is also associated with Atrial septal defect 3, OMIM:614089

Created: 13 Apr 2021, 2:53 p.m. | Last Modified: 13 Apr 2021, 2:53 p.m.

Panel Version: 1.40

Comment on list classification: Downgraded from Amber to Red. There is currently no evidence to support that MYH6 is associated with heterotaxy/laterality defects.

Created: 13 Apr 2021, 2:50 p.m. | Last Modified: 13 Apr 2021, 2:50 p.m.

Panel Version: 1.38

Red List (low evidence)

Variants reported in multiple CHD families, in particular atrial septal defect. Gain of function has been postulated as the disease mechanism. Cannot find association with heterotaxy/laterality defects.

Created: 1 Jun 2020, 8:20 a.m. | Last Modified: 1 Jun 2020, 8:20 a.m.

Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 3 (MIM#614089)

Publications

• 20656787
• 29969989
• 15735645

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: MYH6; Suggested initial gene rating: Amber; Evidence for inclusion: OMIMM ASD3; unclear if associated w/ laterality defects; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given

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