Isomerism and laterality disorders
Gene: MYH6EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Atrial septal defect
- Atrial septal defect 3, 614089
- OMIM
- 160710
- Clinvar variants
- Variants in MYH6
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Laterality disorders and isomerism
- Intellectual disability
- Familial non syndromic congenital heart disease
- Hereditary neuropathy or pain disorder
- Hypertrophic cardiomyopathy
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)MYH6 was added to Isomerism and laterality disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MYH6 was added to Isomerism and laterality disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Created
Ellen McDonagh (Genomics England Curator)MYH6 was created by ellenmcdonagh