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25 Feb 2026	Hypertrophic cardiomyopathy v5.29	MYL2	Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and infantile onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; to: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and a fatal infantile-onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
25 Feb 2026	Hypertrophic cardiomyopathy v5.29	MYL2	Ida Ertmanska Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10; Cardiomyopathy, familial hypertrophic, 10 (608758) to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424; Cardiomyopathy, hypertrophic, 10, OMIM:608758
25 Feb 2026	Hypertrophic cardiomyopathy v5.28	MYL2	Ida Ertmanska Publications for gene: MYL2 were set to 27532257; 28369730; 30681346
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MYL2.
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska edited their review of gene: MYL2: Changed publications to: 23365102, 31127036, 32453731, 33731536
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska commented on gene: MYL2: Comment on mode of inheritance: There are at least 5 unrelated families with biallelic MYL2 variants, and infantile onset myocardial disease. The cardiomyopathy presentation was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. Based on available evidence, the mode of inheritance should be updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska changed review comment from: BIALLELIC CASES: PMID: 32453731 Manivannan et al., 2020 Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease. PMID: 31127036 Marttila et al., 2019 Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs7), and heterozygous for NEB:c.25435C>T, p.(Gln8479) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full. PMID: 23365102 Weterman et al., 2013 1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected. 2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy. All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).; to: BIALLELIC CASES: PMID: 33731536 Tamamitsu et al., 2021 Japanese girl, presented with infantile-onset skeletal myopathy and non-compaction cardiomyopathy at 4 months. She was compound het for MYL2 variants: c.431_432del, p.P144Rfs57 and c.499T>C, p.167Qext?. Proband died at 12 months, elder sister similarly affected with same variants, deceased at 8 months. PMID: 32453731 Manivannan et al., 2020 Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease. PMID: 31127036 Marttila et al., 2019 Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs7), and heterozygous for NEB:c.25435C>T, p.(Gln8479*) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full. PMID: 23365102 Weterman et al., 2013 1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected. 2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy. All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska changed review comment from: BIALLELIC CASES: PMID: 32453731 Manivannan et al., 2020 Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease. PMID: 31127036 Marttila et al., 2019 Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs7), and heterozygous for NEB:c.25435C>T, p.(Gln8479) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full. PMID: 23365102 Weterman et al., 2013 1. 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C. 2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy. All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).; to: BIALLELIC CASES: PMID: 32453731 Manivannan et al., 2020 Patient with severe infantile onset HCM and mitral valve dysplasia, leading to death before 1 year of age. Proband was homozygous for a frameshift MYL2 variant: c.431_432delCT: p.Pro144Argfs57;MYL2-fs - consanguineous parents were heterozygous & unaffected. History of multiple infant deaths in the family due to early-onset cardiac disease. PMID: 31127036 Marttila et al., 2019 Patient with congenital fiber-type disproportion (CFTD) and fatal infantile cardiomyopathy. Individual was homozygous for MYL2 c.188del, p.(Asn63Metfs7), and heterozygous for NEB:c.25435C>T, p.(Gln8479) - inherited from his father. MYL2 variant was ultimately thought to explain the phenotype in full. PMID: 23365102 Weterman et al., 2013 1. Group of 11 individuals from 8 Dutch families with cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and dilated cardiomyopathy. All affected individuals homozygous for MYL2 splice variant c.403-1G>C, heterozygous carriers unaffected. Founder variant suspected. 2. Two Italian siblings with compound heterozygous mutations, c.431delC, p.(Pro144LeufsX2) and c.432delT, p.(Asp145ThrfsX2) - both had infantile cardiomyopathy. All individuals died within 6 months after birth. The cardiomyopathy was mixed, mostly dilated but also including features of hypertrophic, restrictive, and non-compation cardiomyopathy. MYL2 is associated with AD Cardiomyopathy, hypertrophic, 10, MIM:608758 & AR Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM:619424 (OMIM accessed 25th Feb 2026).
25 Feb 2026	Hypertrophic cardiomyopathy v5.27	MYL2	Ida Ertmanska reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 31127036, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424, Cardiomyopathy, hypertrophic, 10, OMIM:608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
02 Dec 2019	Hypertrophic cardiomyopathy v1.81	MYL2	Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
12 Sep 2019	Hypertrophic cardiomyopathy v1.66	MYL2	Ivone Leong Publications for gene: MYL2 were set to 27532257; 28369730
25 Mar 2019	Hypertrophic cardiomyopathy v1.53	MYL2	Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 (608758)
25 Mar 2019	Hypertrophic cardiomyopathy v1.52	MYL2	Rebecca Whittington commented on gene: MYL2: Sarcomeric HCM genes - well established gene
25 Mar 2019	Hypertrophic cardiomyopathy v1.52	JPH2	Rebecca Whittington commented on gene: JPH2: Weak evidence for primary role in pathogenicity: 28082330. Insufficient evidence, no supporting segregation, despite functional assays. PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents were genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases. HGMD: 8 DM variants - 3 DCM rest HCM. Functional studies shown an effect in JPH2 but no variants with evidence of segregation. 10.1093/eurheartj/ehw603
25 Mar 2019	Hypertrophic cardiomyopathy v1.51	MYL2	Rebecca Whittington reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
19 Mar 2019	Hypertrophic cardiomyopathy v1.50	MYL2	Matthew Edwards reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
21 Feb 2019	Hypertrophic cardiomyopathy v1.45	MYL2	Ellen McDonagh Source South West GLH was added to MYL2. Mode of inheritance for gene MYL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2019	Hypertrophic cardiomyopathy v1.44	MYL2	Ellen McDonagh reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
20 Feb 2019	Hypertrophic cardiomyopathy v1.43	MYL2	Ellen McDonagh Source London South GLH was added to MYL2.
14 Feb 2019	Hypertrophic cardiomyopathy v1.42	MYL2	James Eden reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, familial hypertrophic, 10 (608758); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
14 Feb 2019	Hypertrophic cardiomyopathy v1.41	MYL2	Ellen McDonagh Source North West GLH was added to MYL2. Added phenotypes Cardiomyopathy, familial hypertrophic, 10 (608758) for gene: MYL2 Publications for gene MYL2 were changed from to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)