Incidentalome
Gene: MYL3EnsemblGeneIds (GRCh38): ENSG00000160808
EnsemblGeneIds (GRCh37): ENSG00000160808
OMIM: 160790, Gene2Phenotype
MYL3 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, hypertrophic, 8, MIM# 608751
Ivan Macciocca (Victorian Clinical Genetics Services)
DEFINITIVE evidence by ClinGen HCM working group PMID: 30681346Created: 21 Jun 2020, 6:41 a.m. | Last Modified: 21 Jun 2020, 6:41 a.m.
Panel Version: 0.67
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cardiomyopathy, hypertrophic, 8, MIM# 608751
- Tags
- OMIM
- 160790
- Clinvar variants
- Variants in MYL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag cardiac tag was added to gene: MYL3.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myl3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYL3 were changed from to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYL3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MYL3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYL3 was added gene: MYL3 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYL3 was set to Unknown