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Additional findings_Paediatric

Gene: MYL3

Amber List (moderate evidence)

MYL3 (myosin light chain 3)
EnsemblGeneIds (GRCh38): ENSG00000160808
EnsemblGeneIds (GRCh37): ENSG00000160808
OMIM: 160790, Gene2Phenotype
MYL3 is in 8 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 8
OMIM
160790
Clinvar variants
Variants in MYL3
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYL3 was added gene: MYL3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8