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BabyScreen+ newborn screening

Gene: MYLK

Amber List (moderate evidence)

MYLK (myosin light chain kinase)
EnsemblGeneIds (GRCh38): ENSG00000065534
EnsemblGeneIds (GRCh37): ENSG00000065534
OMIM: 600922, Gene2Phenotype
MYLK is in 9 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Aortic aneurysm, familial thoracic 7
OMIM
600922
Clinvar variants
Variants in MYLK
Penetrance
None
Panels with this gene

History Filter Activity

18 Sep 2022, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYLK was added gene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7