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Cardiomyopathies - including childhood onset

Gene: MYLK3

Amber List (moderate evidence)

MYLK3 (myosin light chain kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000140795
EnsemblGeneIds (GRCh37): ENSG00000140795
OMIM: 612147, Gene2Phenotype
MYLK3 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype on OMIM or Gene2Phenotype.

PMID: 29235529 describes 2 families with heterozygous variant in this gene. Family A - 2 sibs diagnosed with DCM at 9 and 10 months of age and affected mother diagnosed with DCM at 40 yo. As the children had a more severe phenotype and earlier onset than the mother the authors did further analysis and found the sibs had an additional variant in FLNC, which is also linked to DCM. The authors suggest this additional variant could account for the more severe phenotype in the children.

Family B - 2 brothers diagnosed with DCM at 56 and 52 yo, both have a heterozygous frameshift variant in this gene. Mother and sister had died young and DCM diagnosis is inconclusive.

PMID: 30690923 describes another case. Proband has a heterozygous frameshift variant in this gene. Rest of the family have no cardiac phenotype and no variants in this gene except for one daughter. Daughter has the same variant and has dilation of LV and ST-T abnormalities but these do not meet the criteria for DCM.

PMID: 32870709 describes three consanguineous families with homozygous variants in this gene.

There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 20 Apr 2021, 10:18 a.m. | Last Modified: 20 Apr 2021, 10:18 a.m.
Panel Version: 1.35

Zornitza Stark (Australian Genomics)

I don't know

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: Literature
Created: 16 Apr 2021, 9:24 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
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
Q2_21_rating
OMIM
612147
Clinvar variants
Variants in MYLK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mylk3 has been classified as Amber List (Moderate Evidence).

20 Apr 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709

20 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MYLK3.

20 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYLK3 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021

16 Apr 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: MYLK3 was added gene: MYLK3 was added to Cardiomyopathies - including childhood onset. 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