Laterality disorders and isomerismGene: 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
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
Atrial septal defect 3 (MIM#614089)
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.
Phenotypes for gene: MYH6 were changed from Atrial septal defect 3, OMIM:614089 to visceral heterotaxy, MONDO:0018677
Gene: myh6 has been classified as Red List (Low Evidence).
Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3, OMIM:614089
Publications for gene: MYH6 were set to
Mode of inheritance for gene: MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Amber was added to MYH6. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: MYH6 was added gene: MYH6 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: MYH6 was set to