Cardiomyopathy_Paediatric
Gene: MYLK3EnsemblGeneIds (GRCh38): ENSG00000140795
EnsemblGeneIds (GRCh37): ENSG00000140795
OMIM: 612147, Gene2Phenotype
MYLK3 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: LiteratureCreated: 20 Mar 2021, 2:35 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Dilated cardiomyopathy
- OMIM
- 612147
- Clinvar variants
- Variants in MYLK3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYLK3 was added gene: MYLK3 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709 Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy Review for gene: MYLK3 was set to AMBER