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  2. Hypertrophic cardiomyopathy_HCM
  3. MYL2
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Hypertrophic cardiomyopathy_HCM

Gene: MYL2

Green List (high evidence)
MYL2 (myosin light chain 2)
EnsemblGeneIds (GRCh38): ENSG00000111245
EnsemblGeneIds (GRCh37): ENSG00000111245
OMIM: 160781, Gene2Phenotype
MYL2 is in 9 panels

1 review

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE by ClinGen HCM working group PMID: 30681346
Created: 19 Jun 2020, 2:38 p.m. | Last Modified: 19 Jun 2020, 2:38 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HCM

Publications

Created: 19 Jun 2020, 2:38 p.m.
Last Modified: 19 Jun 2020, 2:38 p.m.
Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 10, MIM# 608758
OMIM
160781
Clinvar variants
Variants in MYL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myl2 has been classified as Green List (High Evidence).

20 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYL2 were set to

20 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYL2 were changed from to Cardiomyopathy, hypertrophic, 10, MIM# 608758

20 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYL2 was added gene: MYL2 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYL2 was set to Unknown