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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.
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
Hypertrophic cardiomyopathy v5.28 MYL2 Ida Ertmanska Publications for gene: MYL2 were set to 27532257; 28369730; 30681346
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska Tag Q1_26_MOI tag was added to gene: MYL2.
Hypertrophic cardiomyopathy v5.27 MYL2 Ida Ertmanska edited their review of gene: MYL2: Changed publications to: 23365102, 31127036, 32453731, 33731536
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.
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.Pro144Argfs*57;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.(Asn63Metfs*7), 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.P144Rfs*57 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.Pro144Argfs*57;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.(Asn63Metfs*7), 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).
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.Pro144Argfs*57;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.(Asn63Metfs*7), 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.Pro144Argfs*57;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.(Asn63Metfs*7), 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).
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
Hypertrophic cardiomyopathy v5.26 TBX1 Ida Ertmanska Publications for gene: TBX1 were set to PMID: 41130538
Hypertrophic cardiomyopathy v5.25 TBX1 Ida Ertmanska Phenotypes for gene: TBX1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, HP:0001639
Hypertrophic cardiomyopathy v5.24 TBX1 Ida Ertmanska Classified gene: TBX1 as Red List (low evidence)
Hypertrophic cardiomyopathy v5.24 TBX1 Ida Ertmanska Gene: tbx1 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v5.23 TBX1 Ida Ertmanska reviewed gene: TBX1: Rating: RED; Mode of pathogenicity: None; Publications: 41130538; Phenotypes: Hypertrophic cardiomyopathy, HP:0001639; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v5.23 TRIM63 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TRIM63.
Hypertrophic cardiomyopathy v5.23 TRIM63 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621270) and the OMIM record was last accessed on 18 December 2025.
Hypertrophic cardiomyopathy v5.23 TRIM63 Achchuthan Shanmugasundram Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy, MONDO:0005045; restrictive cardiomyopathy, MONDO:0005201 to Cardiomyopathy, familial hypertrophic, 31, OMIM:621270; cardiomyopathy, familial hypertrophic, 31, MONDO:0979573
Hypertrophic cardiomyopathy v5.22 MT-TV Arina Puzriakova commented on gene: MT-TV
Hypertrophic cardiomyopathy v5.22 MT-TL1 Arina Puzriakova commented on gene: MT-TL1
Hypertrophic cardiomyopathy v5.22 MT-ND5 Arina Puzriakova commented on gene: MT-ND5
Hypertrophic cardiomyopathy v5.22 KLHL24 Arina Puzriakova reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v5.22 ALPK3 Arina Puzriakova commented on gene: ALPK3: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Hypertrophic cardiomyopathy v5.21 MT-TV Arina Puzriakova Classified gene: MT-TV as No list
Hypertrophic cardiomyopathy v5.21 MT-TV Arina Puzriakova Gene: mt-tv has been removed from the panel.
Hypertrophic cardiomyopathy v5.20 MT-TV Arina Puzriakova Tag curated_removed tag was added to gene: MT-TV.
Hypertrophic cardiomyopathy v5.20 MT-TV Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MT-TV.
Tag Q2_25_expert_review was removed from gene: MT-TV.
Tag Q2_25_ NHS_review was removed from gene: MT-TV.
Hypertrophic cardiomyopathy v5.20 MT-TL1 Arina Puzriakova Classified gene: MT-TL1 as No list
Hypertrophic cardiomyopathy v5.20 MT-TL1 Arina Puzriakova Gene: mt-tl1 has been removed from the panel.
Hypertrophic cardiomyopathy v5.19 MT-TL1 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MT-TL1.
Tag Q2_25_expert_review was removed from gene: MT-TL1.
Tag Q2_25_ NHS_review was removed from gene: MT-TL1.
Tag curated_removed tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v5.19 MT-ND5 Arina Puzriakova Classified gene: MT-ND5 as No list
Hypertrophic cardiomyopathy v5.19 MT-ND5 Arina Puzriakova Gene: mt-nd5 has been removed from the panel.
Hypertrophic cardiomyopathy v5.18 MT-ND5 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: MT-ND5.
Tag Q2_25_expert_review was removed from gene: MT-ND5.
Tag Q2_25_ NHS_review was removed from gene: MT-ND5.
Tag curated_removed tag was added to gene: MT-ND5.
Hypertrophic cardiomyopathy v5.18 KLHL24 Arina Puzriakova Tag Q3_24_promote_green was removed from gene: KLHL24.
Tag Q3_24_NHS_review was removed from gene: KLHL24.
Hypertrophic cardiomyopathy v5.18 ALPK3 Arina Puzriakova Tag Q3_24_NHS_review was removed from gene: ALPK3.
Tag Q3_24_MOI was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v5.18 KLHL24 Arina Puzriakova Source Expert Review Green was added to KLHL24.
Source NHS GMS was added to KLHL24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v5.18 ALPK3 Arina Puzriakova Mode of inheritance for gene ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v5.17 TBX1 Riyaad Aungraheeta gene: TBX1 was added
gene: TBX1 was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX1 were set to PMID: 41130538
Phenotypes for gene: TBX1 were set to Hypertrophic cardiomyopathy
Review for gene: TBX1 was set to AMBER
Added comment: Sources: Literature
Hypertrophic cardiomyopathy v5.17 SVIL Eleanor Williams Publications for gene: SVIL were set to 39966646
Hypertrophic cardiomyopathy v5.16 SVIL Eleanor Williams Added comment: Comment on publications: PMID:36778260 is a preprint of PMID:39966646
Hypertrophic cardiomyopathy v5.16 SVIL Eleanor Williams Publications for gene: SVIL were set to 39966646
Hypertrophic cardiomyopathy v5.15 SVIL Eleanor Williams Publications for gene: SVIL were set to PMID: 36778260
Hypertrophic cardiomyopathy v5.14 SVIL Ida Ertmanska Phenotypes for gene: SVIL were changed from HCM to hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.13 SVIL Ida Ertmanska Classified gene: SVIL as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v5.13 SVIL Ida Ertmanska Gene: svil has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska changed review comment from: Comment on list classification: The main piece of evidence for this gene-disease association is a GWAS study, with very limited co-segregation evidence (PMID: 39966646). There are no other cases reported with Hypertrophic cardiomyopathy and heterozygous variants in SVIL. Individuals homozygous for nonsense variants in SVIL have been reported, but the myopathy presentation includes very mild to no cardiac involvement (PMID: 32779703). Based on available evidence, this gene should be rated Amber for Hypertrophic cardiomyopathy, until more evidence emerges.; to: Comment on list classification: The main piece of evidence for this gene-disease association is a GWAS study, with no clinical details and limited co-segregation evidence (PMID: 39966646). There are no other cases reported with Hypertrophic cardiomyopathy and heterozygous variants in SVIL. Individuals homozygous for nonsense variants in SVIL have been reported, but the myopathy presentation includes very mild to no cardiac involvement (PMID: 32779703). Based on available evidence, this gene should be rated Amber for Hypertrophic cardiomyopathy, until more evidence emerges.
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska edited their review of gene: SVIL: Added comment: Comment on list classification: The main piece of evidence for this gene-disease association is a GWAS study, with very limited co-segregation evidence (PMID: 39966646). There are no other cases reported with Hypertrophic cardiomyopathy and heterozygous variants in SVIL. Individuals homozygous for nonsense variants in SVIL have been reported, but the myopathy presentation includes very mild to no cardiac involvement (PMID: 32779703). Based on available evidence, this gene should be rated Amber for Hypertrophic cardiomyopathy, until more evidence emerges.; Changed rating: AMBER
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska changed review comment from: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL.
Limited evidence of cosegregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myopathy with myofibrillar disorganization, homozygous for truncating variants in SVIL. Very mild cardiac involvement: Slightly hypertrophic left ventricular wall 2/4, slight tricuspid regurgitation 2/4; Increased basal wall thickness (30mm) in Individual 1 - noted on cardiac MRI at age 27.

Functional evidence:
PMID: 25633252 Deo et al., 2014: Morpholino knockdown of SVIL causes cardiac edema as well as noticeable spinal curvature at higher morhpolino doses.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).; to: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL. Numerous other rare nonsense variants in SVIL were also reported in the non-HCM control cohort (see supplementary table 19).
Limited evidence of segregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myopathy with myofibrillar disorganization, homozygous for truncating variants in SVIL. Very mild cardiac involvement: Slightly hypertrophic left ventricular wall 2/4, slight tricuspid regurgitation 2/4; Increased basal wall thickness (30mm) in Individual 1 - noted on cardiac MRI at age 27.

Functional evidence:
PMID: 25633252 Deo et al., 2014: Morpholino knockdown of SVIL causes cardiac edema as well as noticeable spinal curvature at higher morhpolino doses.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska changed review comment from: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL.
Limited evidence of cosegregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

Functional evidence:
PMID: 25633252 Deo et al., 2014: Morpholino knockdown of SVIL causes cardiac edema as well as noticeable spinal curvature at higher morhpolino doses.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).; to: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL.
Limited evidence of cosegregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

PMID: 32779703 Hedberg-Oldfors et al., 2020
Report of 2 unrelated consanguineous families with myopathy with myofibrillar disorganization, homozygous for truncating variants in SVIL. Very mild cardiac involvement: Slightly hypertrophic left ventricular wall 2/4, slight tricuspid regurgitation 2/4; Increased basal wall thickness (30mm) in Individual 1 - noted on cardiac MRI at age 27.

Functional evidence:
PMID: 25633252 Deo et al., 2014: Morpholino knockdown of SVIL causes cardiac edema as well as noticeable spinal curvature at higher morhpolino doses.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska changed review comment from: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL.
Limited evidence of cosegregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).; to: PMID: 36778260 (2023 pre-print) / PMID: 39966646 Tadros et al., 2025 (published)
GWAS study suggesting rare truncating SVIL variants are associated with high risk of hypertrophic cardiomyopathy. 8 individuals from the HCM cohort were found to carry heterozygous nonsense variants in SVIL.
Limited evidence of cosegregation: variant SVIL:p.(Arg1616Ter) was carried by two siblings with HCM; variant SVIL:p.(Gln255Ter) was carried by two cousins with HCM in another family.

Functional evidence:
PMID: 25633252 Deo et al., 2014: Morpholino knockdown of SVIL causes cardiac edema as well as noticeable spinal curvature at higher morhpolino doses.

The pLI score for SVIL is 0.12, LOEUF = 0.48 - no strong prediction of dosage sensitivity.
This gene is only associated with AR Myofibrillar myopathy 10, 619040 in OMIM (accessed 24th Nov 2025).
Hypertrophic cardiomyopathy v5.12 SVIL Ida Ertmanska reviewed gene: SVIL: Rating: RED; Mode of pathogenicity: None; Publications: 36778260, 39966646; Phenotypes: hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v5.12 MT-ND5 Achchuthan Shanmugasundram changed review comment from: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations.

PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids.

PMID:23847141 - This study analysed the while mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features.

PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene.; to: PMID:14520659 - Three unrelated patients with Leigh's syndrome were identified with m.13513G>A variant in MT-ND5 gene, of which one patient was reported with hypertrophic cardiomyopathy (HCM) among other clinical presentations.

PMID:22759514 - A 3-generation family of Han Chinese descent was reported with maternally inherited isolated HCM. They were identified with a homoplasmic m.12338T>C variant in MT-ND5 gene, leading to the replacement of initiation methionine residue to Threonine, resulting in shortening of the ND5 polypeptide by 2 amino acids.

PMID:23847141 - This study analysed the mitochondrial DNA sequences of a cohort of 743 patients suspected of manifesting a mitochondrial disease. Nine patients were detected with a variant in MT-ND5 gene, and they presented with different combinations of phenotypes. One of four patients with m.13513G>A variants had HCM as one of the clinical features.

PMID:30587702 - A 21-year-old proband presented with biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance. Skeletal muscle biopsy showed features consistent with mitochondrial myopathy. The family was identified with c.1315A>G (p.Thr439Ala) variant in MT-ND5 gene.
Hypertrophic cardiomyopathy v5.12 MT-ND5 Jesse Hayesmoore reviewed gene: MT-ND5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14520659, PMID: 23847141, PMID: 37318682, PMID: 25681084, PMID: 12624137, PMID: 14730434, PMID: 36104228, PMID: 22759514, PMID: 30587702, PMID: 23628297, PMID: 19473338; Phenotypes: Leigh syndrome, LHON, MELAS; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.12 MT-TV Achchuthan Shanmugasundram Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Hypertrophic cardiomyopathy v5.12 MT-TV Achchuthan Shanmugasundram Classified gene: MT-TV as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v5.12 MT-TV Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases reported with MT-TV variants and with hypertrophic cardiomyopathy. However, HCM is part of a syndromic phenotype.

R131 is only intended for genes associated with isolated HCM and not for syndromic genes. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.12 MT-TV Achchuthan Shanmugasundram Gene: mt-tv has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v5.11 MT-TV Achchuthan Shanmugasundram Phenotypes for gene: MT-TV were changed from to MELAS syndrome, MONDO:0010789; hypertrophic cardiomyopathy, MONDO:000504
Hypertrophic cardiomyopathy v5.10 MT-TV Achchuthan Shanmugasundram Publications for gene: MT-TV were set to
Hypertrophic cardiomyopathy v5.9 MT-TV Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TV.
Tag Q2_25_expert_review tag was added to gene: MT-TV.
Tag Q2_25_ NHS_review tag was added to gene: MT-TV.
Hypertrophic cardiomyopathy v5.9 MT-TV Achchuthan Shanmugasundram reviewed gene: MT-TV: Rating: AMBER; Mode of pathogenicity: None; Publications: 15320572, 21986556, 34298071; Phenotypes: MELAS syndrome, MONDO:0010789, hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.9 MT-ND5 Achchuthan Shanmugasundram Classified gene: MT-ND5 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v5.9 MT-ND5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with variants in MT-ND5. The only case of isolated HCM was the family reported in PMID:22759514.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.9 MT-ND5 Achchuthan Shanmugasundram Gene: mt-nd5 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v5.8 MT-ND5 Achchuthan Shanmugasundram Phenotypes for gene: MT-ND5 were changed from to hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.7 MT-ND5 Achchuthan Shanmugasundram Publications for gene: MT-ND5 were set to
Hypertrophic cardiomyopathy v5.6 MT-ND5 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-ND5.
Tag Q2_25_expert_review tag was added to gene: MT-ND5.
Tag Q2_25_ NHS_review tag was added to gene: MT-ND5.
Hypertrophic cardiomyopathy v5.6 MT-ND5 Achchuthan Shanmugasundram edited their review of gene: MT-ND5: Changed rating: AMBER
Hypertrophic cardiomyopathy v5.6 MT-ND5 Achchuthan Shanmugasundram reviewed gene: MT-ND5: Rating: GREEN; Mode of pathogenicity: None; Publications: 14520659, 22759514, 23847141, 30587702; Phenotypes: hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: MT-TL1.
Tag Q2_25_expert_review tag was added to gene: MT-TL1.
Tag Q2_25_ NHS_review tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.; to: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, the rating should remain amber on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.; to: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, expert review from the NHS Genomic Medicine Service is sought with regard to rating this gene green on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.6 MT-TL1 Achchuthan Shanmugasundram Phenotypes for gene: MT-TL1 were changed from to MELAS syndrome caused by mutation in MTTL1, MONDO:0800032; hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.5 MT-TL1 Achchuthan Shanmugasundram Publications for gene: MT-TL1 were set to
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Classified gene: MT-TL1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Katherine Schon, Hypertrophic cardiomyopathy is reported as one of the presenting phenotypes in several unrelated patients with m.3243A>G variant.

However, it should be noted that R131 is only intended for genes associated with isolated HCM and not for syndromic genes. So, the rating should remain amber on this panel.

This gene is therefore better placed as a green rated gene on the WGS clinical indication R135 Paediatric or syndromic cardiomyopathy.
Hypertrophic cardiomyopathy v5.4 MT-TL1 Achchuthan Shanmugasundram Gene: mt-tl1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy (HCM), or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient. ; to: As per https://www.mitophen.org, there are more than ten different patients reported in peer-reviewed scientific literature with m.3243A>G variant and with hypertrophic cardiomyopathy (HCM) as one of the presenting phenotypes

PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, HCM, or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 7473662, 8477849, 12874464, 14673589, 25639022, 30888501, 30133155; Changed phenotypes to: MELAS syndrome caused by mutation in MTTL1, MONDO:0800032, hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy (HCM) as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.; to: PMID:7473662 - The m.3243 A > G variant segregated with maternally inherited diabetes mellitus, sensorineural deafness, hypertrophic cardiomyopathy (HCM), or renal failure in a large pedigree of 35 affected members across four generations.

PMID:8477849 - The m.3243 A > G variant was identified in a family suffering from a syndrome with diabetes, deafness and HCMN as main clinical features.

PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had HCM as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.

PMID:30133155 - Nine unrelated patients were reported with m.3243 A > G variant, of which only three patients met the criteria for MELAS syndrome. HCM was reported in eight of these patients moderate to severe regurgitation of various valves. Electrocardiography (ECG) showed preexcitation pattern with short PR intervals and delta waves (Wolff‐Parkinson‐White) in three patients and sick sinus syndrome plus atrioventricular block I in one patient.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 7473662, 12874464, 14673589, 25639022, 30888501
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram changed review comment from: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and hypertrophic cardiomyopathy.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with hypertrophic cardiomyopathy among several clinical manifestations.; to: PMID:12874464 - Nine patients with m.3243 A > G variant and prominent kidney disease was reported, of which one had hypertrophic cardiomyopathy (HCM) as one of the clinical manifestations.

PMID:14673589 - A 37-year-old male patient was reported with persistent organic personality change as a rare psychiatric manifestation of MELAS syndrome, which was not reported previously. In addition to the core phenotypes of MELAS syndrome and psychiatric manifestations, the patient also presented with cardiac findings, preexcitation syndrome and HCM.

PMID:25639022 - Five patients with psychiatric disturbances were reported with MELAS syndrome, of which four patients harboured m.3243 A > G variant. Two of them presented with HCM among several clinical manifestations.

PMID:30888501 - Retrospectively reviewed 27 MELAS patients from a patient cohort seen at a hospital, of which 13 patients were diagnosed with m.3243 A > G variant. HCM was found in one of them, while wolff parkinson white and congestive heart failure were reported in one each.
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram edited their review of gene: MT-TL1: Changed publications to: 12874464, 14673589, 25639022, 30888501
Hypertrophic cardiomyopathy v5.3 MT-TL1 Achchuthan Shanmugasundram reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 12874464, 14673589, 25639022; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.3 MT-ND5 Katherine Schon reviewed gene: MT-ND5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22759514, 30587702; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.3 MT-TL1 Katherine Schon reviewed gene: MT-TL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22513320, 31403078, 23355809; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.3 MT-TV Katherine Schon reviewed gene: MT-TV: Rating: GREEN; Mode of pathogenicity: Other; Publications: 34298071, 15320572; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.2 MT-ND5 Achchuthan Shanmugasundram gene: MT-ND5 was added
gene: MT-ND5 was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Hypertrophic cardiomyopathy v5.2 MT-TV Achchuthan Shanmugasundram gene: MT-TV was added
gene: MT-TV was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Mode of pathogenicity for gene: MT-TV was set to Other
Hypertrophic cardiomyopathy v5.1 Sarah Leigh Panel version 5.0 has been signed off on 2025-04-30
Hypertrophic cardiomyopathy v5.0 Sarah Leigh promoted panel to version 5.0
Hypertrophic cardiomyopathy v4.21 ALPK3 Riyaad Aungraheeta reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40255155; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v4.21 MT-TI Eleanor Williams changed review comment from: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. However, reviewers note that only the m.4300A>G variant should be looked at.; to: The rating of this gene was initially updated to green following NHS Genomic Medicine Service approval, but after later review it was demoted to amber again before the panel was signed off for GMS use, with the comment that it would be better to be analysed through the WGS panel R135 Paediatric or syndromic cardiomyopathy. Reviewers also noted that only the m.4300A>G variant should be looked at.
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber.

Below is the summary of recommendation from the NHS Genomic Medicine Service:
MT-TI appears to cause a pretty severe early-onset cardiomyopathy often with other mitochondrial features where reported and therefore suggest that it remains as amber on this panel and is better placed as a green rated gene on R135 where it is already green rated.
Hypertrophic cardiomyopathy v4.21 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.20 MT-TI Achchuthan Shanmugasundram edited their review of gene: MT-TI: Changed rating: AMBER
Hypertrophic cardiomyopathy v4.20 ALPK3 Dmitrijs Rots commented on gene: ALPK3: As mentioned - should be BOTH biallelic and monoallelic. Still not updated.
Hypertrophic cardiomyopathy v4.20 MT-TI Eleanor Williams Publications for gene: MT-TI were set to 12767666; 21945886; 23332932; 29481798; 30025578
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams edited their review of gene: MT-TI: Added comment: PMID: 39639347 Lopes et al 2024 - Used the bioinformatics pipeline, MitoHPC, to call mtDNA variants in 1363 genomes of cardiomyopathy patients from the 100,000 genomes project. 4 patients, all with a diagnosis of hypertrophic cardiomyopathy (HCM), with no previously identified genetic cause, had the m.4300A>G variant identified (0.6% of HCM cases without a diagnosis). No individuals from the control group were found to have this variant.; Changed publications to: 39639347
Hypertrophic cardiomyopathy v4.19 TULP3 Eleanor Williams Tag Q2_23_promote_green was removed from gene: TULP3.
Tag Q2_23_NHS_review was removed from gene: TULP3.
Hypertrophic cardiomyopathy v4.19 RPS6KB1 Eleanor Williams Tag Q4_22_promote_green was removed from gene: RPS6KB1.
Hypertrophic cardiomyopathy v4.19 RPS6KB1 Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The reviewers felt there was not yet sufficient evidence for a gene-disease association and there is a 'limited' rating for this association in ClinGen (as of 13-Sept-2023.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The reviewers felt there was not yet sufficient evidence for a gene-disease association and there is a 'limited' rating for this association in ClinGen (as of 13-Sept-2023).
Hypertrophic cardiomyopathy v4.19 TBX20 Eleanor Williams Tag Q2_24_promote_green was removed from gene: TBX20.
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams Tag Q2_24_promote_green was removed from gene: MT-TI.
Hypertrophic cardiomyopathy v4.19 TULP3 Eleanor Williams commented on gene: TULP3
Hypertrophic cardiomyopathy v4.19 RPS6KB1 Eleanor Williams commented on gene: RPS6KB1
Hypertrophic cardiomyopathy v4.19 TBX20 Eleanor Williams reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v4.19 MT-TI Eleanor Williams reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v4.18 TBX20 Eleanor Williams Source Expert Review Green was added to TBX20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v4.18 MT-TI Eleanor Williams Source NHS GMS was added to MT-TI.
Source Expert Review Green was added to MT-TI.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v4.17 Sarah Leigh Panel version 4.16 has been signed off on 2024-10-30
Hypertrophic cardiomyopathy v4.16 MT-TI Arina Puzriakova Tag gene-checked tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.16 ALPK3 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Tag Q3_24_MOI tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v4.16 ALPK3 Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: KLHL24.
Tag Q3_24_NHS_review tag was added to gene: KLHL24.
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Hypertrophic cardiomyopathy v4.15 KLHL24 Sarah Leigh Classified gene: KLHL24 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.15 KLHL24 Sarah Leigh Gene: klhl24 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.14 Achchuthan Shanmugasundram Panel version 4.13 has been signed off on 2024-08-07
Hypertrophic cardiomyopathy v4.13 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v4.13 KLHL24 Nour Elkhateeb gene: KLHL24 was added
gene: KLHL24 was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 30715372; 32870709; 36672924
Phenotypes for gene: KLHL24 were set to Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death
Review for gene: KLHL24 was set to GREEN
Added comment: KLHL24 variants have been reported in relation to autosomal recessive hypertrophic cardiomyopathy in several individuals from four families in three publications (PMIDs: 30715372, 32870709, 36672924) with variants including missense and nonsense variants. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression data (PMID: 23715323).
Sources: Literature
Hypertrophic cardiomyopathy v4.13 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.13 TBX20 Sarah Leigh Entity copied from Dilated and arrhythmogenic cardiomyopathy v2.31
Hypertrophic cardiomyopathy v4.13 TBX20 Sarah Leigh gene: TBX20 was added
gene: TBX20 was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,NHS GMS
Q2_24_promote_green tags were added to gene: TBX20.
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 17668378; 19762328; 37657916; 33585493; 29089047; 35282022
Phenotypes for gene: TBX20 were set to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least four unrelated cases with hypertrophic cardiomyopathy and hence this gene can be promoted to green rating in the next GMS review.
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.11 MT-TI Achchuthan Shanmugasundram Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Hypertrophic cardiomyopathy v4.10 MT-TI Achchuthan Shanmugasundram Publications for gene: MT-TI were set to 12767666; 30025578
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v4.9 Achchuthan Shanmugasundram Panel version 4.8 has been signed off on 2024-05-01
Hypertrophic cardiomyopathy v4.7 SVIL Dmitrijs Rots gene: SVIL was added
gene: SVIL was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SVIL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SVIL were set to PMID: 36778260
Phenotypes for gene: SVIL were set to HCM
Review for gene: SVIL was set to AMBER
Added comment: In the novel paper described:"the excess burden is even greater at 15.3-fold (95% CI: 5.7-41.3; P:7x10−7) when restricting the analysis to high confidence LoF variants affecting the predominant SVIL transcript in LV (ENST00000375400) (Supplementary Table 6b). In one family, the SVIL LoF variant (p.(Gln255*)) was carried by two cousins with HCM (parents deceased), providing some evidence of co-segregation. Taken together, these data support SVIL as a novel HCM disease gene."
Strong statistical evidence + one family segregating.
Sources: Literature
Hypertrophic cardiomyopathy v4.7 ALPK3 Dmitrijs Rots commented on gene: ALPK3: As described by Luis Lopes, should be BOTH monoallelic and biallelic on this panel.
Hypertrophic cardiomyopathy v4.6 TULP3 Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TULP3.
Hypertrophic cardiomyopathy v4.4 TULP3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three cases with cardiac hypertrophy and hence this gene can be promoted to GREEN rating at the next major update.; to: Comment on list classification: There are three cases reported with cardiac phenotype and hence this gene can be promoted to GREEN rating at the next major update.
Hypertrophic cardiomyopathy v4.4 TULP3 Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TULP3.
Hypertrophic cardiomyopathy v4.4 TULP3 Achchuthan Shanmugasundram Phenotypes for gene: TULP3 were changed from hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Hypertrophic cardiomyopathy v4.3 TULP3 Achchuthan Shanmugasundram Publications for gene: TULP3 were set to 35397207
Hypertrophic cardiomyopathy v4.2 TULP3 Achchuthan Shanmugasundram Classified gene: TULP3 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.2 TULP3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three cases with cardiac hypertrophy and hence this gene can be promoted to GREEN rating at the next major update.
Hypertrophic cardiomyopathy v4.2 TULP3 Achchuthan Shanmugasundram Gene: tulp3 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.1 TULP3 Achchuthan Shanmugasundram changed review comment from: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions.; to: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions.

PMID:36460032 reported an individual with compound heterozygous variants in TULP3 gene and with left ventricular hypertrophy in addition to kidney cysts and liver fibrosis.
Hypertrophic cardiomyopathy v4.1 TULP3 Achchuthan Shanmugasundram edited their review of gene: TULP3: Changed publications to: 35397207, 36460032
Hypertrophic cardiomyopathy v4.1 TULP3 Achchuthan Shanmugasundram changed review comment from: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models recapitulated the phenotypes observed in patients including the kidney cysts.; to: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions.
Hypertrophic cardiomyopathy v4.1 TULP3 Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35397207; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v4.1 TULP3 John Sayer gene: TULP3 was added
gene: TULP3 was added to Hypertrophic cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to 35397207
Phenotypes for gene: TULP3 were set to hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis
Penetrance for gene: TULP3 were set to Complete
Review for gene: TULP3 was set to RED
Added comment: 3 cases of hypertrophic cardiomyopathy reported by Devane et al. PMID 35397207
Sources: Expert list
Hypertrophic cardiomyopathy v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2023-03-22
Hypertrophic cardiomyopathy v4.0 Arina Puzriakova promoted panel to version 4.0
Hypertrophic cardiomyopathy v3.5 Arina Puzriakova Panel name changed from Hypertrophic cardiomyopathy - teen and adult to Hypertrophic cardiomyopathy
List of related panels changed from Hypertrophic Cardiomyopathy; HCM; R131 to Hypertrophic cardiomyopathy - teen and adult; HCM; R131
Hypertrophic cardiomyopathy v3.4 SCO2 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: Hypertrophic cardiomyopathy is part of the overall OMIM phenotype of Mitochondrial complex IV deficiency, nuclear type 2 (MIM #604377), which is an autosomal recessive disorder. As autosomal dominant variants cause Myopia 6 (MIM #608908), the MOI should be changed to 'BIALLELIC, autosomal or pseudoautosomal'.
Hypertrophic cardiomyopathy v3.4 SCO2 Achchuthan Shanmugasundram Mode of inheritance for gene: SCO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v3.3 ALPK3 Arina Puzriakova Tag Q2_22_rating was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova Tag Q3_22_rating was removed from gene: JPH2.
Tag Q3_22_expert_review was removed from gene: JPH2.
Hypertrophic cardiomyopathy v3.3 ALPK3 Arina Puzriakova reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v3.3 JPH2 Arina Puzriakova reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v3.2 ALPK3 Arina Puzriakova Source Expert Review Green was added to ALPK3.
Source NHS GMS was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v3.2 JPH2 Arina Puzriakova Source NHS GMS was added to JPH2.
Source Expert Review Amber was added to JPH2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hypertrophic cardiomyopathy v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Hypertrophic cardiomyopathy v3.0 Eleanor Williams promoted panel to version 3.0
Hypertrophic cardiomyopathy v2.44 RPS6KB1 Arina Puzriakova Classified gene: RPS6KB1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.44 RPS6KB1 Arina Puzriakova Added comment: Comment on list classification: This gene should be promoted to Green at the next GMS panel update (5 unrelated cases plus functional data)
Hypertrophic cardiomyopathy v2.44 RPS6KB1 Arina Puzriakova Gene: rps6kb1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v2.43 RPS6KB1 Arina Puzriakova gene: RPS6KB1 was added
gene: RPS6KB1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature
Q4_22_promote_green tags were added to gene: RPS6KB1.
Mode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS6KB1 were set to 34916228
Phenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy
Review for gene: RPS6KB1 was set to GREEN
Added comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640)
Sources: Literature
Hypertrophic cardiomyopathy v2.42 MYH7 Arina Puzriakova Added comment: Comment on mode of inheritance: Association with monoallelic variants is well-established. To date, only four families have been reported with recessive variants (PMIDs: 14659406; 25666907; 17372140; 31130376). Of these, one family developed dilated cardiomyopathy and one had hypertrophic cardiomyopathy, while cardiac function was normal in the remaining two families. Therefore, maintaining MOI of monoallelic only at this time but with a watchlist_moi tag to monitor for evidence linking biallelic variants linked to HCM.
Hypertrophic cardiomyopathy v2.42 MYH7 Arina Puzriakova Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v2.41 MYH7 Arina Puzriakova Tag watchlist_moi tag was added to gene: MYH7.
Hypertrophic cardiomyopathy v2.41 JPH2 Eleanor Williams commented on gene: JPH2
Hypertrophic cardiomyopathy v2.41 JPH2 Eleanor Williams Tag Q2_21_expert_review was removed from gene: JPH2.
Tag Q3_22_rating tag was added to gene: JPH2.
Tag Q3_22_expert_review tag was added to gene: JPH2.
Hypertrophic cardiomyopathy v2.41 NEXN Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, familial hypertrophic, 20, ; Cardiomyopathy, hypertrophic, 20 (613876) to Cardiomyopathy, hypertrophic, 20, OMIM:613876
Hypertrophic cardiomyopathy v2.40 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005 to Hypertrophic cardiomyopathy; Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; Long QT syndrome 8, OMIM:618447; long qt syndrome 8, MONDO:0032756; Brugada syndrome 3, OMIM:611875; Brugada syndrome 3, MONDO:0012742; CACNA1C-related disorder
Hypertrophic cardiomyopathy v2.39 ALPK3 Ivone Leong Tag Q2_22_rating tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v2.39 ALPK3 Ivone Leong Added comment: Comment on publications: New publications added.
Hypertrophic cardiomyopathy v2.39 ALPK3 Ivone Leong Publications for gene: ALPK3 were set to 26846950; 27106955; 32480058; 28630369; 30046096; 31074094; 21441111
Hypertrophic cardiomyopathy v2.38 ALPK3 Luis Lopes reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34263907, 35583889; Phenotypes: Hypertrophic Cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.38 TRIM63 Eleanor Williams Tag gene-checked tag was added to gene: TRIM63.
Hypertrophic cardiomyopathy v2.38 FXN_GAA Sarah Leigh commented on STR: FXN_GAA
Hypertrophic cardiomyopathy v2.36 FXN_GAA Arina Puzriakova Source NHS GMS was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy v2.35 GYG1 Ivone Leong Tag Q4_21_expert_review was removed from gene: GYG1.
Tag Q4_21_NHS_review was removed from gene: GYG1.
Hypertrophic cardiomyopathy v2.35 GYG1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Hypertrophic cardiomyopathy v2.35 TRIM63 Ivone Leong Tag Q3_21_rating was removed from gene: TRIM63.
Tag Q3_21_NHS_review was removed from gene: TRIM63.
Hypertrophic cardiomyopathy v2.35 TRIM63 Ivone Leong commented on gene: TRIM63: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Hypertrophic cardiomyopathy v2.35 GYG1 Ivone Leong commented on gene: GYG1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Hypertrophic cardiomyopathy v2.34 TRIM63 Ivone Leong Source Expert Review Green was added to TRIM63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag Q3_21_MOI was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag Q3_21_NHS_review was removed from gene: ALPK3.
Tag Q3_21_expert_review was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong Tag for-review was removed from gene: ALPK3.
Hypertrophic cardiomyopathy v2.33 ALPK3 Ivone Leong commented on gene: ALPK3: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Hypertrophic cardiomyopathy v2.32 GYG1 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: GYG1.
Hypertrophic cardiomyopathy v2.32 FXN Arina Puzriakova Phenotypes for gene: FXN were changed from syndromic HCM to Friedreich ataxia, OMIM:229300; Friedreich ataxia with retained reflexes, OMIM:229300
Hypertrophic cardiomyopathy v2.31 CRYAB Arina Puzriakova Phenotypes for gene: CRYAB were changed from "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha ‐ B crystallin ‐ related, 613869" to Myopathy, myofibrillar, 2, OMIM:608810
Hypertrophic cardiomyopathy v2.30 GYG1 Ivone Leong Tag Q4_21_expert_review tag was added to gene: GYG1.
Hypertrophic cardiomyopathy v2.30 GYG1 Ivone Leong Tag watchlist tag was added to gene: GYG1.
Hypertrophic cardiomyopathy v2.30 GYG1 Ivone Leong Classified gene: GYG1 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.30 GYG1 Ivone Leong Added comment: Comment on list classification: New gene added by Oliver Watkinson (NHS). THis gene is associated with a phenotype in OMIM but not Gene2Phenotype. While there are >3 unrelated cases of affected patients with HCM there are other patients with variants in this gene who do not have any cardiomyopathy phenotype. As indicated by Oliver Watkinson, the sister of an affected patient had the same genotype but was unaffected. Based on the available evidence this gene has been given an Amber rating until more cases are available.
Hypertrophic cardiomyopathy v2.30 GYG1 Ivone Leong Gene: gyg1 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v2.29 GYG1 Ivone Leong Phenotypes for gene: GYG1 were changed from to ?Glycogen storage disease XV, OMIM:613507; hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v2.28 GYG1 Ivone Leong Publications for gene: GYG1 were set to 27718144
Hypertrophic cardiomyopathy v2.27 GYG1 Oliver Watkinson reviewed gene: GYG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27718144, 20357282, 31628455; Phenotypes: Hypertrophic Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.27 GYG1 Oliver Watkinson gene: GYG1 was added
gene: GYG1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature
Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GYG1 were set to 27718144
Penetrance for gene: GYG1 were set to Incomplete
Hypertrophic cardiomyopathy v2.27 ALPK3 Ivone Leong Tag Q3_21_NHS_review tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v2.27 ALPK3 Ivone Leong Phenotypes for gene: ALPK3 were changed from Cardiomyopathy, familial hypertrophic 27, 618052 to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Hypertrophic cardiomyopathy v2.26 ALPK3 Ivone Leong Tag Q3_21_expert_review tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v2.26 ALPK3 Ivone Leong Tag Q3_21_MOI tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v2.26 ALPK3 Oliver Watkinson reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32480058; Phenotypes: Hypertrophic Cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.26 TRIM63 Ivone Leong Classified gene: TRIM63 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.26 TRIM63 Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. This gene is not associated with a phenotype in OMIM or Gene2Phenotype.

PMID:32451364 reported 16 index cases with homozygous/compound het TRIM63 variants. 15 have HCM and 1 with restrictive cardiomyopathy. Only those with homozygous/compound het variants had disease (heterozygous family members were healthy).

This gene should be promoted to Green status at the next review as there is enough evidence to support a gene-disease association.
Hypertrophic cardiomyopathy v2.26 TRIM63 Ivone Leong Gene: trim63 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v2.25 TRIM63 Ivone Leong Tag Q3_21_rating tag was added to gene: TRIM63.
Tag Q3_21_NHS_review tag was added to gene: TRIM63.
Hypertrophic cardiomyopathy v2.25 TRIM63 Ivone Leong Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045; restrictive cardiomyopathy, MONDO:0005201
Hypertrophic cardiomyopathy v2.24 TRIM63 Ivone Leong Mode of inheritance for gene: TRIM63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.23 TRIM63 Ivone Leong Publications for gene: TRIM63 were set to
Hypertrophic cardiomyopathy v2.22 TRIM63 Oliver Watkinson reviewed gene: TRIM63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 32451364; Phenotypes: hypertrophic cardiomyopathy, restrictive cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.22 ALPK3 Dmitrijs Rots reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32480058; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v2.22 ATAD3A Arina Puzriakova Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, 617183 to Harel-Yoon syndrome, OMIM:617183
Hypertrophic cardiomyopathy v2.21 FXN_GAA Sarah Leigh Phenotypes for STR: FXN_GAA were changed from Friedreich ataxia 229300 to Friedreich ataxia OMIM:229300; Friedreich ataxia with retained reflexes OMIM:229300; Friedreich ataxia 1 MONDO:0100340
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong commented on gene: JPH2: This gene has been tagged and will be submitted for review by the GMS expert group.
Hypertrophic cardiomyopathy v2.20 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17 (613873) to Cardiomyopathy, hypertrophic, 17, OMIM:613873
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346; 23973696; 26869393; 28393127; 30235249
Hypertrophic cardiomyopathy v2.19 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457; 30681346
Hypertrophic cardiomyopathy v2.18 JPH2 Ivone Leong Tag Q2_21_expert_review tag was added to gene: JPH2.
Hypertrophic cardiomyopathy v2.18 FHOD3 Ivone Leong Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v2.17 FHOD3 Ivone Leong Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Hypertrophic cardiomyopathy v2.16 FXN_GAA Arina Puzriakova Tag curated_removed tag was added to STR: FXN_GAA.
Hypertrophic cardiomyopathy v2.16 FLNC Arina Puzriakova Phenotypes for gene: FLNC were changed from to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883
Hypertrophic cardiomyopathy v2.15 MYH7 Arina Puzriakova Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430); Cardiomyopathy, familial hypertrophic, 1, to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647
Hypertrophic cardiomyopathy v2.14 ALPK3 Ivone Leong Added comment: Comment on mode of inheritance: MOI has been changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BIALLELIC, autosomal or pseudoautosomal".

All the published cases of affected individuals have homozygous variants in this gene. However, family members who are heterozygous for the ALPK3 variants either show no cardiac phenotype or have later-onset cardiomyopathy or an atypical distribution of hypertrophy (PMID: 26846950, 30046096, 2710685, 32480058). PMID: 32480058 found that some individuals with heterozygous variants in ALPK3 are diagnosed with HCM when they are adults. The paper suggests that LoF ALPK3 variants are enriched in adults with cardiomyopathy and may contribute to their cardiomyopathy.

More evidence is needed for heterozygous variants in ALPK3 contributing to disease, so therefore the change of MOI. The inclusion of heterozygous variants of ALPK3 will be reviewed at the next panel review.
Hypertrophic cardiomyopathy v2.14 ALPK3 Ivone Leong Mode of inheritance for gene: ALPK3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v2.12 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Panel version has been signed off
Hypertrophic cardiomyopathy v2.11 JPH2 Zornitza Stark reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v2.11 ALPK3 Ivone Leong Tag for-review tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v2.11 ALPK3 Ivone Leong Classified gene: ALPK3 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.11 ALPK3 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease assocation for it to be Green. This gene will be promoted to Green at the next panel review.
Hypertrophic cardiomyopathy v2.11 ALPK3 Ivone Leong Gene: alpk3 has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v2.10 ALPK3 Ivone Leong Added comment: Comment on publications: PMID: 28630369. An additional case. Non-consanguineous family of Turkish decent. Fetus was homozgyous for variant and died at 30 weeks gestation. Heterozygous family members had normal cardiac function. Fetus also had dysmorphic facial features.

PMID: 30046096. An additional case. A consanguineous family of Tunisian decent. 3 year old affected with mixed HCM/DCM and dysmorphic features.

PMID: 31074094. An additional case. A family with 6 affected individuals.

PMID: 21441111. KO mouse model that replicates the human disease phenotype
Hypertrophic cardiomyopathy v2.10 ALPK3 Ivone Leong Publications for gene: ALPK3 were set to 26846950; 27106955; 32480058
Hypertrophic cardiomyopathy v2.9 ALPK3 Ivone Leong Phenotypes for gene: ALPK3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic 27, 618052
Hypertrophic cardiomyopathy v2.8 ATAD3A Ivone Leong Classified gene: ATAD3A as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v2.8 ATAD3A Ivone Leong Gene: atad3a has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v2.7 ATAD3A Ivone Leong gene: ATAD3A was added
gene: ATAD3A was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature
watchlist tags were added to gene: ATAD3A.
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307; 28652416; 28158749; 31727539
Phenotypes for gene: ATAD3A were set to Harel-Yoon syndrome, 617183
Review for gene: ATAD3A was set to AMBER
Added comment: Added new gene as Amber based on the available literature. As not every patient with a monoallelic/biallelic variant in this gene presented with HCM, this gene has been rated Amber until further evidence is available.

PMID: 27640307 describes 5 patients from 5 unrelated families with the same de novo variant (c.1582 C>T, R528W). 3/5 patients have optic atrophy and 2/5 have HCM. The authors have suggested that R528W exerts a dominant negative effect.

Three patients from 2 additional families have biallelic variants (1 compound heterozygous and 1 biallelic deletion of ATAD3B and ATAD3A). These 3 patients did not have optic atrophy nor HCM, but had congenital cataracts.

PMID: 28158749 describes a family with monoallelic variant (c.1064 G>A, G355D) where affected mother and son do not have optic atrophy nor HCM but have hereditary spastic paraplegia.

PMID: 31727539 describes a consanguineous family with 4 affected individuals with biallelic variant (c.1217T>G, L406R). 3/4 had congenital cataracts and 4/4 had HCM. No one had optic atrophy.
Sources: Literature
Hypertrophic cardiomyopathy v2.6 Ivone Leong Panel version has been signed off
Hypertrophic cardiomyopathy v2.4 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Expert list
Mode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 27106955; 32480058
Phenotypes for gene: ALPK3 were set to Hypertrophic cardiomyopathy
Review for gene: ALPK3 was set to GREEN
gene: ALPK3 was marked as current diagnostic
Added comment: Assessed as Strong by ClinGen (ALPK3-HCM)

4 consanguineous families with ALPK3 biallelic pathogenic variants were identified in 2 papers. 3 families are reported in Alomani (2015) (26846950) and 1 in Phelan (2016) with accompanying functional evidence (27106955). ALPK3 knock out mice develop cardiomyopathy (DCM and HCM) Van Sligtenhorst (2012).

A case series of 19 paeditric cardiomyopathy cases with ALPK3 pathogeic variants concluded: Biallelic damaging ALPK3 variants cause pediatric cardiomyopathy manifested by DCM transitioning to hypertrophy, often with poor contractile function. Additional extracardiac features occur in most patients, including musculoskeletal abnormalities and cleft palate. Heterozygous LoF ALPK3 variants are enriched in adults with cardiomyopathy and may contribute to their cardiomyopathy. Adults with ALPK3 LoF variants therefore warrant evaluations for cardiomyopathy.
Sources: Expert list
Hypertrophic cardiomyopathy v2.3 Catherine Snow Panel version has been signed off
Hypertrophic cardiomyopathy v2.2 Catherine Snow Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypertrophic cardiomyopathy v2.1 JPH2 Louise Daugherty Tag watchlist was removed from gene: JPH2.
Hypertrophic cardiomyopathy v2.1 JPH2 Louise Daugherty commented on gene: JPH2
Hypertrophic cardiomyopathy v2.1 FLNC Louise Daugherty Tag watchlist was removed from gene: FLNC.
Hypertrophic cardiomyopathy v2.1 FLNC Louise Daugherty commented on gene: FLNC
Hypertrophic cardiomyopathy v2.1 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypertrophic cardiomyopathy v2.0 Ivone Leong promoted panel to version 2.0
Hypertrophic cardiomyopathy v1.95 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel; GMS signed-off
Hypertrophic cardiomyopathy v1.94 JPH2 Ivone Leong Source Expert Review Green was added to JPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 FHOD3 Ivone Leong Source Expert Review Green was added to FHOD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 CACNA1C Ivone Leong Source Expert Review Green was added to CACNA1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.94 ACTN2 Ivone Leong Source Expert Review Green was added to ACTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.93 JPH2 Kate Thomson reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 FHOD3 Kate Thomson reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 CACNA1C Kate Thomson reviewed gene: CACNA1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.93 ACTN2 Kate Thomson reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.92 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; Component Of Super Panel
Hypertrophic cardiomyopathy v1.91 TSFM Ivone Leong Added comment: Comment on mode of inheritance: MOI corrected.
Hypertrophic cardiomyopathy v1.91 TSFM Ivone Leong Mode of inheritance for gene: TSFM was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.90 NEXN Ivone Leong Classified gene: NEXN as Red List (low evidence)
Hypertrophic cardiomyopathy v1.90 NEXN Ivone Leong Gene: nexn has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.89 MYLK2 Ivone Leong Publications for gene: MYLK2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.88 JPH2 Ivone Leong Phenotypes for gene: JPH2 were changed from Cardiomyopathy, familial hypertrophic 17, to Cardiomyopathy, familial hypertrophic 17 (613873)
Hypertrophic cardiomyopathy v1.87 CACNA1C Ivone Leong Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; Long QT syndrome; Brugada syndrome to Hypertrophic cardiomyopathy; Brugada syndrome 3 611875; Long QT syndrome 8 618447; Timothy syndrome 601005
Hypertrophic cardiomyopathy v1.86 CACNA1C Ivone Leong Publications for gene: CACNA1C were set to 24183960; doi:10.​1007/​s12265-016-9673-5
Hypertrophic cardiomyopathy v1.85 ACTN2 Ivone Leong Phenotypes for gene: ACTN2 were changed from to Cardiomyopathy, dilated, 1AA, with or without LVNC 612158; Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158
Hypertrophic cardiomyopathy v1.84 ACTN2 Ivone Leong Publications for gene: ACTN2 were set to 25224718; 25173926; 20022194
Hypertrophic cardiomyopathy v1.83 TTR Ivone Leong Phenotypes for gene: TTR were changed from Cardiac amyloidosis to Cardiac amyloidosis; Amyloidosis, hereditary, transthyretin-related, 105210
Hypertrophic cardiomyopathy v1.82 FLNC Ivone Leong Publications for gene: FLNC were set to 25351925; 28356264; 30411535
Hypertrophic cardiomyopathy v1.81 NEXN Ivone Leong reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MT-TI Ivone Leong reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 CACNA1C Ivone Leong reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 VCL Ivone Leong reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNC1 Ivone Leong reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYLK2 Ivone Leong reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 JPH2 Ivone Leong reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 FLNC Ivone Leong edited their review of gene: FLNC: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 FHOD3 Ivone Leong reviewed gene: FHOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 CSRP3 Ivone Leong reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 ACTN2 Ivone Leong reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TTR Ivone Leong reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TPM1 Ivone Leong reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNT2 Ivone Leong reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 TNNI3 Ivone Leong edited their review of gene: TNNI3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 PRKAG2 Ivone Leong reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 PLN Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYL3 Ivone Leong reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYL2 Ivone Leong reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYH7 Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 MYBPC3 Ivone Leong edited their review of gene: MYBPC3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 LAMP2 Ivone Leong reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 GLA Ivone Leong edited their review of gene: GLA: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.; Changed rating: GREEN
Hypertrophic cardiomyopathy v1.81 FHL1 Ivone Leong reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.81 ACTC1 Ivone Leong reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.80 CACNA1C Ivone Leong Classified gene: CACNA1C as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.80 CACNA1C Ivone Leong Gene: cacna1c has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.79 LZTR1 Ivone Leong Source Expert Review Red was added to LZTR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hypertrophic cardiomyopathy v1.79 FHOD3 Ivone Leong gene: FHOD3 was added
gene: FHOD3 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FHOD3 were set to 23255317; 29907873; 31742804
Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy v1.78 MYBPC3 Ivone Leong Added comment: Comment on mode of inheritance: MOI changed due to evidence in OMIM that there are patients who are biallelic for variants in this gene.
Hypertrophic cardiomyopathy v1.78 MYBPC3 Ivone Leong Mode of inheritance for gene: MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.77 MT-TI James Eden reviewed gene: MT-TI: Rating: AMBER; Mode of pathogenicity: None; Publications: 12767666; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Hypertrophic cardiomyopathy v1.77 MYH6 Ellen McDonagh Publications for gene: MYH6 were set to 27532257; 22194935
Hypertrophic cardiomyopathy v1.76 TNNI3 Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Hypertrophic cardiomyopathy v1.76 TNNI3 Ivone Leong Mode of inheritance for gene: TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.75 GLA Ivone Leong Added comment: Comment on mode of inheritance: MOI was corrected.
Hypertrophic cardiomyopathy v1.75 GLA Ivone Leong Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v1.74 CACNA1C James Eden reviewed gene: CACNA1C: Rating: AMBER; Mode of pathogenicity: None; Publications: 26253506; Phenotypes: Brugada syndrome 3 611875, Long QT syndrome 8 618447, Timothy syndrome 601005; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 ACTN2 James Eden reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20022194, 27287556; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC 612158, Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 JPH2 James Eden reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17509612; Phenotypes: Cardiomyopathy, hypertrophic, 17 (613873); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 LZTR1 James Eden reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: Noonan syndrome 10 (616564), Noonan syndrome 2 (605275); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.74 FLNC James Eden reviewed gene: FLNC: Rating: AMBER; Mode of pathogenicity: None; Publications: 28356264; Phenotypes: Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5 (617047), Myopathy, distal, 4 (614065), Myopathy, myofibrillar, 5 (609524); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 VCL James Eden reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 VCL James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 NEXN James Eden reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 20970104, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 NEXN James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 MYLK2 James Eden reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 MYLK2 James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 VCL James Eden reviewed gene: VCL: Rating: RED; Mode of pathogenicity: None; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.74 VCL James Eden Deleted their review
Hypertrophic cardiomyopathy v1.74 MYPN Matthew Edwards reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 NEXN Matthew Edwards reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: None; Publications: 20970104, 27532257, 30681346; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 MYLK2 Matthew Edwards reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 ACTN2 Matthew Edwards reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 TTR Matthew Edwards reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28475415; Phenotypes: Amyloidosis, hereditary, transthyretin-related OMIM 105210; Mode of inheritance: None; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.74 ACTC1 Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.; to: Gene on CGGL Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.
Hypertrophic cardiomyopathy v1.74 TNNI3 Matthew Edwards changed review comment from: Gene on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.; to: Gene on CGGL Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.
Hypertrophic cardiomyopathy v1.74 LZTR1 Matthew Edwards reviewed gene: LZTR1: Rating: RED; Mode of pathogenicity: None; Publications: 30732632; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Classified gene: FLNC as Green List (high evidence)
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on evidence provided by expert reviews.
Hypertrophic cardiomyopathy v1.74 FLNC Ivone Leong Gene: flnc has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.73 TPM1 Ivone Leong Publications for gene: TPM1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.72 TNNT2 Ivone Leong Publications for gene: TNNT2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.71 TNNI3 Ivone Leong Publications for gene: TNNI3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.70 TNNC1 Ivone Leong Publications for gene: TNNC1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.69 PRKAG2 Ivone Leong Publications for gene: PRKAG2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.68 PLN Ivone Leong Publications for gene: PLN were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.67 MYL3 Ivone Leong Publications for gene: MYL3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.66 MYL2 Ivone Leong Publications for gene: MYL2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.65 MYH7 Ivone Leong Publications for gene: MYH7 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.64 MYBPC3 Ivone Leong Publications for gene: MYBPC3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.63 LAMP2 Ivone Leong Publications for gene: LAMP2 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.62 GLA Ivone Leong Publications for gene: GLA were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.61 FHL1 Ivone Leong Publications for gene: FHL1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.60 CSRP3 Ivone Leong Publications for gene: CSRP3 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.59 ACTC1 Ivone Leong Publications for gene: ACTC1 were set to 27532257; 28369730
Hypertrophic cardiomyopathy v1.58 JPH2 Ivone Leong Publications for gene: JPH2 were set to 28393127; 17509612; 17476457
Hypertrophic cardiomyopathy v1.57 Ivone Leong List of related panels changed from Hypertrophic Cardiomyopathy; HCM to Hypertrophic Cardiomyopathy; HCM; R131
Hypertrophic cardiomyopathy v1.56 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 28356264, 25351925; Phenotypes: arrythmogenic cardiomyopathy, Cardiomyopathy, familial hypertrophic, 26, Cardiomyopathy, familial restrictive 5, Myopathy, myofibrillar, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.56 TTR Ellen McDonagh Publications for gene: TTR were set to 28475415; 16115295; 16194874; 26537620; 1626570; 1570831
Hypertrophic cardiomyopathy v1.55 TTR Ellen McDonagh edited their review of gene: TTR: Added comment: The 'treatable' tag has been added due to new therapies available that target this gene. Inotersen is an antisense oligonucleotide inhibitor of mutant and wild-type human transthyretin (TTR), developed and approved by NICE for the treatment of hereditary transthyretin amyloidosis (hATTR) (PMID: 30120737, https://www.nice.org.uk/guidance/hst9/chapter/1-Recommendations). Patisiran is a small interfering RNA (siRNA) molecule that targets the transthyretin gene (TTR) messenger mRNA (mRNA), to suppress both mutant and wild-type amyloid transthyretin (ATTR) protein production. This drug has been approved by NHSE for treatment of transthyretin-mediated amyloidosis (https://www.bbc.co.uk/news/health-48907976).; Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737
Hypertrophic cardiomyopathy v1.55 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Hypertrophic cardiomyopathy v1.53 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Glycogen storage disease IIIa&b
Hypertrophic cardiomyopathy v1.53 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related (105210 )
Hypertrophic cardiomyopathy v1.53 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26 (102565)
Hypertrophic cardiomyopathy v1.53 ACTN2 Rebecca Whittington commented on gene: ACTN2: Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
Hypertrophic cardiomyopathy v1.53 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, hypertrophic, 3 (115196)
Hypertrophic cardiomyopathy v1.53 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, hypertrophic, 2 (115195)
Hypertrophic cardiomyopathy v1.53 TNNI3 Rebecca Whittington commented on gene: TNNI3: Cardiomyopathy, hypertrophic, 7 (613690 )
Hypertrophic cardiomyopathy v1.53 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, hypertrophic, 13 (613243)
Hypertrophic cardiomyopathy v1.53 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 (600858 )
Hypertrophic cardiomyopathy v1.53 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, hypertrophic, 18 (613874 )
Hypertrophic cardiomyopathy v1.53 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 (160790 )
Hypertrophic cardiomyopathy v1.53 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 (608758)
Hypertrophic cardiomyopathy v1.53 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, hypertrophic, 1 (192600 )
Hypertrophic cardiomyopathy v1.53 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, hypertrophic, 4 (115197)
Hypertrophic cardiomyopathy v1.53 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease (300257)
Hypertrophic cardiomyopathy v1.53 GLA Rebecca Whittington commented on gene: GLA: Fabry disease (301500)
Hypertrophic cardiomyopathy v1.53 FHL1 Rebecca Whittington commented on gene: FHL1: Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Hypertrophic cardiomyopathy v1.53 CSRP3 Rebecca Whittington commented on gene: CSRP3: Cardiomyopathy, hypertrophic, 12. 612124
Hypertrophic cardiomyopathy v1.53 ACTC1 Rebecca Whittington commented on gene: ACTC1: Cardiomyopathy, hypertrophic, 11 612098
Hypertrophic cardiomyopathy v1.53 TRIM63 Rebecca Whittington commented on gene: TRIM63: No OMIM phenotype
Hypertrophic cardiomyopathy v1.53 TMEM70 Rebecca Whittington commented on gene: TMEM70: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (614052)
Hypertrophic cardiomyopathy v1.53 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Cardiomyopathy, hypertrophic, 16 (613838)
Hypertrophic cardiomyopathy v1.53 MYOM1 Rebecca Whittington commented on gene: MYOM1: No phenotype on OMIM, associations with HCM
Hypertrophic cardiomyopathy v1.53 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, hypertrophic, 15 (613255)
Hypertrophic cardiomyopathy v1.53 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, familial hypertrophic, 9 (613765)
Hypertrophic cardiomyopathy v1.53 TSFM Rebecca Whittington commented on gene: TSFM: Combined oxidative phosphorylation deficiency 3 (610505)
Hypertrophic cardiomyopathy v1.53 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 (607487)
Hypertrophic cardiomyopathy v1.53 SOS1 Rebecca Whittington commented on gene: SOS1: Noonan syndrome 4 (610773)
Hypertrophic cardiomyopathy v1.53 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
Hypertrophic cardiomyopathy v1.53 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: Mitochondrial phosphate carrier deficiency (610773)
Hypertrophic cardiomyopathy v1.53 SHOC2 Rebecca Whittington commented on gene: SHOC2: Noonan-like syndrome with loose anagen hair (607721)
Hypertrophic cardiomyopathy v1.53 SCO2 Rebecca Whittington commented on gene: SCO2: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (604377); Myopia 6 (608908)
Hypertrophic cardiomyopathy v1.53 RAF1 Rebecca Whittington commented on gene: RAF1: Noonan syndrome 5 (611553); LEOPARD syndrome 2 (611554); Cardiomyopathy, dilated, 1NN (615916)
Hypertrophic cardiomyopathy v1.53 PTPN11 Rebecca Whittington commented on gene: PTPN11: LEOPARD syndrome 1 (151100); Noonan syndrome 1 (163950)
Hypertrophic cardiomyopathy v1.53 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype
Hypertrophic cardiomyopathy v1.53 NRAS Rebecca Whittington commented on gene: NRAS: Noonan syndrome 6 (613224)
Hypertrophic cardiomyopathy v1.53 MYO6 Rebecca Whittington commented on gene: MYO6: Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (606346)
Hypertrophic cardiomyopathy v1.53 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No phenotype
Hypertrophic cardiomyopathy v1.53 MRPL3 Rebecca Whittington commented on gene: MRPL3: Combined oxidative phosphorylation deficiency 9 (614582)
Hypertrophic cardiomyopathy v1.53 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: Cardiofaciocutaneous syndrome 4 (615280)
Hypertrophic cardiomyopathy v1.53 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Cardiofaciocutaneous syndrome 3 (615279)
Hypertrophic cardiomyopathy v1.53 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Hypertrophic cardiomyopathy v1.53 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, hypertrophic, 24 (601493)
Hypertrophic cardiomyopathy v1.53 KLF10 Rebecca Whittington commented on gene: KLF10: No phenotype
Hypertrophic cardiomyopathy v1.53 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (607554); Long QT syndrome 1 (192500) and others
Hypertrophic cardiomyopathy v1.53 HRAS Rebecca Whittington commented on gene: HRAS: Costello syndrome (218040)
Hypertrophic cardiomyopathy v1.53 GUSB Rebecca Whittington commented on gene: GUSB: Mucopolysaccharidosis VII (253220)
Hypertrophic cardiomyopathy v1.53 GLB1 Rebecca Whittington commented on gene: GLB1: GM1-gangliosidosis, type I, II, III (230500, 230600, 230650)
Hypertrophic cardiomyopathy v1.53 GAA Rebecca Whittington commented on gene: GAA: Glycogen storage disease II (232300)
Hypertrophic cardiomyopathy v1.53 FXN Rebecca Whittington commented on gene: FXN: Friedreich ataxia (229300)
Hypertrophic cardiomyopathy v1.53 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficiency, nuclear type 19 (618241)
Hypertrophic cardiomyopathy v1.53 CRYAB Rebecca Whittington commented on gene: CRYAB: Cardiomyopathy, dilated, 1II (123590); Myopathy, myofibrillar, 2 (608810)
Hypertrophic cardiomyopathy v1.53 COA5 Rebecca Whittington commented on gene: COA5: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (616500)
Hypertrophic cardiomyopathy v1.53 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (192600 )
Hypertrophic cardiomyopathy v1.53 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Hypertrophic cardiomyopathy v1.53 CALR3 Rebecca Whittington commented on gene: CALR3: omim 611414 no phenotype
Hypertrophic cardiomyopathy v1.53 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (611875); Timothy syndrome (601005)
Hypertrophic cardiomyopathy v1.53 BRAF Rebecca Whittington commented on gene: BRAF: Cardiofaciocutaneous syndrome (115150)
Hypertrophic cardiomyopathy v1.53 ATP5E Rebecca Whittington commented on gene: ATP5E: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (614053)
Hypertrophic cardiomyopathy v1.53 AGL Rebecca Whittington commented on gene: AGL: VLCAD deficiency 1A&B (232400)
Hypertrophic cardiomyopathy v1.53 ACADVL Rebecca Whittington commented on gene: ACADVL: VLCAD deficiency (201475)
Hypertrophic cardiomyopathy v1.53 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, hypertrophic, 20 (613876 )
Hypertrophic cardiomyopathy v1.53 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, hypertrophic, 22 (615248 )
Hypertrophic cardiomyopathy v1.53 MYLK2 Rebecca Whittington commented on gene: MYLK2: Cardiomyopathy, hypertrophic, 1, digenic (192600)
Hypertrophic cardiomyopathy v1.53 JPH2 Rebecca Whittington commented on gene: JPH2: Cardiomyopathy, hypertrophic, 17 (605267 )
Hypertrophic cardiomyopathy v1.53 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419 )
Hypertrophic cardiomyopathy v1.53 ACTA1 Rebecca Whittington commented on gene: ACTA1: ?Myopathy, scapulohumeroperoneal (616852); Myopathy, actin, congenital, with cores (161800); Myopathy, congenital, with fiber-type disproportion 1 (255310); Nemaline myopathy 3, autosomal dominant or recessive (161800)
Hypertrophic cardiomyopathy v1.53 MYH6 Rebecca Whittington commented on gene: MYH6: Cardiomyopathy, hypertrophic, 14 (613251 )
Hypertrophic cardiomyopathy v1.52 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Hypertrophic cardiomyopathy v1.52 TTR Rebecca Whittington commented on gene: TTR: 29567486 /28369730: HCM phenocopy. OMIM 105210 - hereditary, transthyretin-related Amyloidosis: cardiomyopathy associated with phenotype. Few DM variants on HGMD associated with cardiomyopathy, HCM only are VUS. 28635949: specific cardiac variants in this gene.
Hypertrophic cardiomyopathy v1.52 FLNC Rebecca Whittington commented on gene: FLNC: 28369730: Strong evidence, but relatively high frequency of rare variants in population (3.2%). Further characterisation required. 28356264 Gomez 2016 (Circ Cardiovasc Genet. 2017;10:e001584. DOI: 10.1161/CIRCGENETICS.116.001584.) : 6 LP variants in 7 patients. Classification based on ACMG and segregation.
Hypertrophic cardiomyopathy v1.52 ACTN2 Rebecca Whittington commented on gene: ACTN2: Reported to segregate in relatively large pedigrees, but LOD score <3. Moderate evidence: 28082330. Classified as a core HCM gene: 29567486
Hypertrophic cardiomyopathy v1.52 TPM1 Rebecca Whittington commented on gene: TPM1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNT2 Rebecca Whittington commented on gene: TNNT2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNI3 Rebecca Whittington commented on gene: TNNI3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNC1 Rebecca Whittington commented on gene: TNNC1: Troponin complex. Multiple reports to HGMD, a lot of functional evidence but does not appear to be any segregation. Classified as a main HCM causing gene in: 28369730. Weak evidence for primary pathogenic role: 28082330 - ?modifier. Minor HCM gene - 28790153. Termed core gene: 29567486
Hypertrophic cardiomyopathy v1.52 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 PLN Rebecca Whittington commented on gene: PLN: Rare HCM gene - strong evidence 28082330 for primary role. Only 3 missense variants on HGMD as LP does not appear to be segregation (27532257; 26573135). 2 regulatory variants - 16829191 with some functional work.
Hypertrophic cardiomyopathy v1.52 MYL3 Rebecca Whittington commented on gene: MYL3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYL2 Rebecca Whittington commented on gene: MYL2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYH7 Rebecca Whittington commented on gene: MYH7: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 LAMP2 Rebecca Whittington commented on gene: LAMP2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 FHL1 Rebecca Whittington commented on gene: FHL1: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 CSRP3 Rebecca Whittington commented on gene: CSRP3: Rare HCM gene. Strong evidence: 28082330. Well established gene
Hypertrophic cardiomyopathy v1.52 ACTC1 Rebecca Whittington commented on gene: ACTC1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TRIM63 Rebecca Whittington commented on gene: TRIM63: Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Hypertrophic cardiomyopathy v1.52 TMEM70 Rebecca Whittington commented on gene: TMEM70: DOI: 10.1016/j.ymgme.2014.01.001 - HCM key feature of AR disease.
Hypertrophic cardiomyopathy v1.52 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Four DM variants on HGMD with two references: Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 and Osio (2007) Circ Res 100: 766 PubMed: 17347475. Mouse model generated using a couple of missesnse variants detected and suggest involvement in HCM: Ruggiero (2013) Cardiovasc Res 97: 44 PubMed: 22987565. May be a rare cause of disease. 1 of these variants has been downgraded to a VUS given MAF. Insuffient evidence, no segregation.
Hypertrophic cardiomyopathy v1.52 MYOM1 Rebecca Whittington commented on gene: MYOM1: HGMD: 8 DM variants listed all but one with HCM (the 8th variant assoc with DCM) Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 lists some of these variants. All missense. Bottillo (2016) Gene 577: 227 PubMed: 26656175 .
Hypertrophic cardiomyopathy v1.52 VCL Rebecca Whittington commented on gene: VCL: Reports on HGMD are VUS (2 downgraded)
Hypertrophic cardiomyopathy v1.52 TTN Rebecca Whittington commented on gene: TTN: Limited evidence for HCM
Hypertrophic cardiomyopathy v1.52 TSFM Rebecca Whittington commented on gene: TSFM: AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505
Hypertrophic cardiomyopathy v1.52 TCAP Rebecca Whittington commented on gene: TCAP: 6 cases on HGMD, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168
Hypertrophic cardiomyopathy v1.52 SOS1 Rebecca Whittington commented on gene: SOS1: Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.
Hypertrophic cardiomyopathy v1.52 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: AR mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SHOC2 Rebecca Whittington commented on gene: SHOC2: Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.
Hypertrophic cardiomyopathy v1.52 SCO2 Rebecca Whittington commented on gene: SCO2: BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Hypertrophic cardiomyopathy v1.52 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also. No evidence for HCM
Hypertrophic cardiomyopathy v1.52 PTPN11 Rebecca Whittington commented on gene: PTPN11: Some patients may have HCM
Hypertrophic cardiomyopathy v1.52 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence. Does not appear to be associated with HCM.
Hypertrophic cardiomyopathy v1.52 NRAS Rebecca Whittington commented on gene: NRAS: Rasopathy gene. In HGMD mainly associated with Noonans/Costello syndrome
Hypertrophic cardiomyopathy v1.52 MYO6 Rebecca Whittington commented on gene: MYO6: 1 report of HCM with deafness. 15060111
Hypertrophic cardiomyopathy v1.52 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No evidence
Hypertrophic cardiomyopathy v1.52 MRPL3 Rebecca Whittington commented on gene: MRPL3: HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Hypertrophic cardiomyopathy v1.52 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: 30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome.
Hypertrophic cardiomyopathy v1.52 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Rasopathy gene. Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome.
Hypertrophic cardiomyopathy v1.52 LMNA Rebecca Whittington commented on gene: LMNA: 1 report on HGMD associated with HCM, other cardiomyopathy phenotypes described
Hypertrophic cardiomyopathy v1.52 LDB3 Rebecca Whittington commented on gene: LDB3: 1 report on HGMD associated with HCM
Hypertrophic cardiomyopathy v1.52 KLF10 Rebecca Whittington commented on gene: KLF10: 6 DM variants on HGMD reported in , but 3 reduced pathogenicity following subsequent review. (pubmed 22234868, 30165862, 23299917)
Hypertrophic cardiomyopathy v1.52 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Arrhythmia gene
Hypertrophic cardiomyopathy v1.52 HRAS Rebecca Whittington commented on gene: HRAS: Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.
Hypertrophic cardiomyopathy v1.52 GUSB Rebecca Whittington commented on gene: GUSB: Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature.
Hypertrophic cardiomyopathy v1.52 GLB1 Rebecca Whittington commented on gene: GLB1: OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key feature
Hypertrophic cardiomyopathy v1.52 GAA Rebecca Whittington commented on gene: GAA: Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.
Hypertrophic cardiomyopathy v1.52 FXN Rebecca Whittington commented on gene: FXN: 1 report associated
Hypertrophic cardiomyopathy v1.52 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficency has HCM.
Hypertrophic cardiomyopathy v1.52 CRYAB Rebecca Whittington commented on gene: CRYAB: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Hypertrophic cardiomyopathy v1.52 COA5 Rebecca Whittington commented on gene: COA5: AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy.
Hypertrophic cardiomyopathy v1.52 CAV3 Rebecca Whittington commented on gene: CAV3: OMIM association with LQT9. Limited evidence for disease association. HGMD reports in association with several disorders including 2 DM variants in HCM (26656175,14672715) . Main association rippling muscle disease and LGMD. A few associated with LQT.
Hypertrophic cardiomyopathy v1.52 CASQ2 Rebecca Whittington commented on gene: CASQ2: ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Hypertrophic cardiomyopathy v1.52 CALR3 Rebecca Whittington commented on gene: CALR3: HGMD: 2 x DM variants associated with HCM; Chiu (2007) J Mol Cell Cardiol 43: 337 PubMed: 17655857 - both variants reported here are reported in ESP population.
Hypertrophic cardiomyopathy v1.52 CACNA1C Rebecca Whittington commented on gene: CACNA1C: HGMD - 1 variant described with HCM Pubmed: 24183960
Hypertrophic cardiomyopathy v1.52 BRAF Rebecca Whittington commented on gene: BRAF: Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
Hypertrophic cardiomyopathy v1.52 ATP5E Rebecca Whittington commented on gene: ATP5E: Not listed on HGMD, OMIM: 1 nonsense variant and associated with mitochondrial disease, patient has HCM: Mayr Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
Hypertrophic cardiomyopathy v1.52 AGL Rebecca Whittington commented on gene: AGL: Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Hypertrophic cardiomyopathy v1.52 ACADVL Rebecca Whittington commented on gene: ACADVL: BGL: 5 variants detected all heterozygous. 2 LP or P. Just for paediatric panel due to BioMet guidelines. OMIM: can be key feature associated with cardiomyopathy and sudden death - infantile.
Hypertrophic cardiomyopathy v1.52 NEXN Rebecca Whittington commented on gene: NEXN: Functional data only 28369730. Included as a minor HCM gene in 28790153. 2 pathogenic variants reported to HGMD associated with HCM: 20970104 - 1 MAF 0.6%, other present in 2 alleles. Lots of VUS.
Hypertrophic cardiomyopathy v1.52 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. MYPN mutations cause either a cardiac (AD) or a congenital skeletal muscle disorder (AR) through different modes of inheritance pUBMED 28220527. Functional evidence only - 28082330, 28369730
Hypertrophic cardiomyopathy v1.52 MYLK2 Rebecca Whittington commented on gene: MYLK2: HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence
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
Hypertrophic cardiomyopathy v1.52 DES Rebecca Whittington commented on gene: DES: 3 DM variants associated with HCM on HGMD. Pubmed: 29167554, 29907873 with mixed phenotypes. Functional characterisation in 1 variant 21262226, 17221859
Hypertrophic cardiomyopathy v1.52 ACTA1 Rebecca Whittington commented on gene: ACTA1: Tadokoro 2018 (Journal of the Neurological Sciences 393 (2018) 142144: 1) patient but presented case series of 7 patients presenting with myopathy and 2 had DCM five others had HCM, all childhood onset so needs to be on paediatric panel. 15520409 (2004) shows segregation of variants with disease in two multi generational families.
Hypertrophic cardiomyopathy v1.52 MYH6 Rebecca Whittington commented on gene: MYH6: No - Cardiomyopathy, dilated, 1EE OMIM 613252 . Inheritance unknown (OMIM) Weak evidence according to 28082330. Not listed in 28369730
Hypertrophic cardiomyopathy v1.51 ANKRD1 Rebecca Whittington reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TTR Rebecca Whittington reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FLNC Rebecca Whittington reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTN2 Rebecca Whittington reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TPM1 Rebecca Whittington reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNT2 Rebecca Whittington reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNI3 Rebecca Whittington reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TNNC1 Rebecca Whittington reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PRKAG2 Rebecca Whittington reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 PLN Rebecca Whittington reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYL3 Rebecca Whittington reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
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
Hypertrophic cardiomyopathy v1.51 MYH7 Rebecca Whittington reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 MYBPC3 Rebecca Whittington reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 LAMP2 Rebecca Whittington reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 GLA Rebecca Whittington reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 FHL1 Rebecca Whittington reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 CSRP3 Rebecca Whittington reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 ACTC1 Rebecca Whittington reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.51 TRIM63 Rebecca Whittington reviewed gene: TRIM63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 TMEM70 Rebecca Whittington reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYOZ2 Rebecca Whittington reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYOM1 Rebecca Whittington reviewed gene: MYOM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 VCL Rebecca Whittington reviewed gene: VCL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TTN Rebecca Whittington reviewed gene: TTN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 TSFM Rebecca Whittington reviewed gene: TSFM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 TCAP Rebecca Whittington reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SOS1 Rebecca Whittington reviewed gene: SOS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SLC25A4 Rebecca Whittington reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 SLC25A3 Rebecca Whittington reviewed gene: SLC25A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 SHOC2 Rebecca Whittington reviewed gene: SHOC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 SCO2 Rebecca Whittington reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 RAF1 Rebecca Whittington reviewed gene: RAF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PTPN11 Rebecca Whittington reviewed gene: PTPN11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 PDLIM3 Rebecca Whittington reviewed gene: PDLIM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 NRAS Rebecca Whittington reviewed gene: NRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYO6 Rebecca Whittington reviewed gene: MYO6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MT-TL1 Rebecca Whittington reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MRPL3 Rebecca Whittington reviewed gene: MRPL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MAP2K2 Rebecca Whittington reviewed gene: MAP2K2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 MAP2K1 Rebecca Whittington reviewed gene: MAP2K1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 LMNA Rebecca Whittington reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 LDB3 Rebecca Whittington reviewed gene: LDB3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 KLF10 Rebecca Whittington reviewed gene: KLF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 KCNQ1 Rebecca Whittington reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 HRAS Rebecca Whittington reviewed gene: HRAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 GUSB Rebecca Whittington reviewed gene: GUSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GLB1 Rebecca Whittington reviewed gene: GLB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 GAA Rebecca Whittington reviewed gene: GAA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FXN Rebecca Whittington reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 FOXRED1 Rebecca Whittington reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CRYAB Rebecca Whittington reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 COA5 Rebecca Whittington reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CAV3 Rebecca Whittington reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 CASQ2 Rebecca Whittington reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 CALR3 Rebecca Whittington reviewed gene: CALR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 CACNA1C Rebecca Whittington reviewed gene: CACNA1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 BRAF Rebecca Whittington reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 ATP5E Rebecca Whittington reviewed gene: ATP5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Hypertrophic cardiomyopathy v1.51 AGL Rebecca Whittington reviewed gene: AGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACADVL Rebecca Whittington reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 NEXN Rebecca Whittington reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYPN Rebecca Whittington reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 MYLK2 Rebecca Whittington reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 JPH2 Rebecca Whittington reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.51 DES Rebecca Whittington reviewed gene: DES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 ACTA1 Rebecca Whittington reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.51 MYH6 Rebecca Whittington reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.50 PRKAG2 Matthew Edwards reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038, 15673802; Phenotypes: Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740), Wolff-Parkinson-White syndrome (194200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 PLN Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313, 27532257, 28369730, 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 LAMP2 Matthew Edwards reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26835038; Phenotypes: Danon disease (300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v1.50 GLA Matthew Edwards reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, cardiac variant (301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrophic cardiomyopathy v1.50 FHL1 Matthew Edwards reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346, 20186852, 22523091, 29926425; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypertrophic cardiomyopathy v1.50 CSRP3 Matthew Edwards reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 JPH2 Matthew Edwards reviewed gene: JPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNC1 Matthew Edwards reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Hypertrophic cardiomyopathy v1.50 MYL3 Matthew Edwards reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TPM1 Matthew Edwards reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 TNNI3 Matthew Edwards reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.50 TNNT2 Matthew Edwards reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYH7 Matthew Edwards reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MYBPC3 Matthew Edwards reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 ACTC1 Matthew Edwards reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Marked gene: MT-TI as ready
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Added comment: Comment on list classification: After discussion at the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should remain Amber to await more evidence.
Hypertrophic cardiomyopathy v1.50 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Marked gene: FLNC as ready
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Tag watchlist tag was added to gene: FLNC.
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Added comment: Comment on list classification: After discussion at the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019, this gene should be kept Amber and the 'watchlist' tag added for emerging phenotype data.
Hypertrophic cardiomyopathy v1.49 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.48 CSRP3 Ellen McDonagh Marked gene: CSRP3 as ready
Hypertrophic cardiomyopathy v1.48 CSRP3 Ellen McDonagh Gene: csrp3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.48 CSRP3 Ellen McDonagh Classified gene: CSRP3 as Green List (high evidence)
Hypertrophic cardiomyopathy v1.48 CSRP3 Ellen McDonagh Added comment: Comment on list classification: Though this is a rare cause of HCM, the overall decision in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 was to keep this gene as Green on this panel.
Hypertrophic cardiomyopathy v1.48 CSRP3 Ellen McDonagh Gene: csrp3 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.47 MYH6 Ellen McDonagh Marked gene: MYH6 as ready
Hypertrophic cardiomyopathy v1.47 MYH6 Ellen McDonagh Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.47 MYH6 Ellen McDonagh Classified gene: MYH6 as Red List (low evidence)
Hypertrophic cardiomyopathy v1.47 MYH6 Ellen McDonagh Added comment: Comment on list classification: Due to limited evidence for causation of Hypertrophic cardiomyopathy, the decision was made to demote this gene from Green to Red in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019.
Hypertrophic cardiomyopathy v1.47 MYH6 Ellen McDonagh Gene: myh6 has been classified as Red List (Low Evidence).
Hypertrophic cardiomyopathy v1.46 LZTR1 Ellen McDonagh Classified gene: LZTR1 as Green List (high evidence)
Hypertrophic cardiomyopathy v1.46 LZTR1 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to new review from Anna De Burca, and clinical advise that this gene would be suitable to include on this panel.
Hypertrophic cardiomyopathy v1.46 LZTR1 Ellen McDonagh Gene: lztr1 has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.45 TRIM63 Ellen McDonagh Source South West GLH was added to TRIM63.
Hypertrophic cardiomyopathy v1.45 TMEM70 Ellen McDonagh Source South West GLH was added to TMEM70.
Mode of inheritance for gene TMEM70 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 MYOZ2 Ellen McDonagh Source South West GLH was added to MYOZ2.
Mode of inheritance for gene MYOZ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYOM1 Ellen McDonagh Source South West GLH was added to MYOM1.
Mode of inheritance for gene MYOM1 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 VCL Ellen McDonagh Source South West GLH was added to VCL.
Mode of inheritance for gene VCL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TTN Ellen McDonagh Source South West GLH was added to TTN.
Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TSFM Ellen McDonagh Source South West GLH was added to TSFM.
Mode of inheritance for gene TSFM was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 TCAP Ellen McDonagh Source South West GLH was added to TCAP.
Mode of inheritance for gene TCAP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 SOS1 Ellen McDonagh Source South West GLH was added to SOS1.
Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 SLC25A4 Ellen McDonagh Source South West GLH was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 SLC25A3 Ellen McDonagh Source South West GLH was added to SLC25A3.
Mode of inheritance for gene SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Hypertrophic cardiomyopathy v1.45 SHOC2 Ellen McDonagh Source South West GLH was added to SHOC2.
Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 SCO2 Ellen McDonagh Source South West GLH was added to SCO2.
Mode of inheritance for gene SCO2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 RAF1 Ellen McDonagh Source South West GLH was added to RAF1.
Mode of inheritance for gene RAF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 PTPN11 Ellen McDonagh Source South West GLH was added to PTPN11.
Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 PDLIM3 Ellen McDonagh Source South West GLH was added to PDLIM3.
Mode of inheritance for gene PDLIM3 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 NRAS Ellen McDonagh Source South West GLH was added to NRAS.
Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYO6 Ellen McDonagh Source South West GLH was added to MYO6.
Mode of inheritance for gene MYO6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MT-TL1 Ellen McDonagh Source South West GLH was added to MT-TL1.
Hypertrophic cardiomyopathy v1.45 MRPL3 Ellen McDonagh Source South West GLH was added to MRPL3.
Mode of inheritance for gene MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 MAP2K2 Ellen McDonagh Source South West GLH was added to MAP2K2.
Mode of inheritance for gene MAP2K2 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 MAP2K1 Ellen McDonagh Source South West GLH was added to MAP2K1.
Mode of inheritance for gene MAP2K1 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 LMNA Ellen McDonagh Source South West GLH was added to LMNA.
Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 LDB3 Ellen McDonagh Source South West GLH was added to LDB3.
Mode of inheritance for gene LDB3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 KLF10 Ellen McDonagh Source South West GLH was added to KLF10.
Hypertrophic cardiomyopathy v1.45 KCNQ1 Ellen McDonagh Source South West GLH was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 HRAS Ellen McDonagh Source South West GLH was added to HRAS.
Mode of inheritance for gene HRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 GUSB Ellen McDonagh Source South West GLH was added to GUSB.
Mode of inheritance for gene GUSB was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 GLB1 Ellen McDonagh Source South West GLH was added to GLB1.
Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 GAA Ellen McDonagh Source South West GLH was added to GAA.
Mode of inheritance for gene GAA was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 FXN Ellen McDonagh Source South West GLH was added to FXN.
Mode of inheritance for gene FXN was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 FOXRED1 Ellen McDonagh Source South West GLH was added to FOXRED1.
Mode of inheritance for gene FOXRED1 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 CRYAB Ellen McDonagh Source South West GLH was added to CRYAB.
Mode of inheritance for gene CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 COA5 Ellen McDonagh Source South West GLH was added to COA5.
Mode of inheritance for gene COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 CAV3 Ellen McDonagh Source South West GLH was added to CAV3.
Mode of inheritance for gene CAV3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 CASQ2 Ellen McDonagh Source South West GLH was added to CASQ2.
Mode of inheritance for gene CASQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 CALR3 Ellen McDonagh Source South West GLH was added to CALR3.
Mode of inheritance for gene CALR3 was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 CACNA1C Ellen McDonagh Source South West GLH was added to CACNA1C.
Mode of inheritance for gene CACNA1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 BRAF Ellen McDonagh Source South West GLH was added to BRAF.
Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 ATP5E Ellen McDonagh Source South West GLH was added to ATP5E.
Mode of inheritance for gene ATP5E was changed from to Unknown
Hypertrophic cardiomyopathy v1.45 ANKRD1 Ellen McDonagh Source South West GLH was added to ANKRD1.
Mode of inheritance for gene ANKRD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 AGL Ellen McDonagh Source South West GLH was added to AGL.
Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 ACADVL Ellen McDonagh Source South West GLH was added to ACADVL.
Mode of inheritance for gene ACADVL was changed from to BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 NEXN Ellen McDonagh Source South West GLH was added to NEXN.
Mode of inheritance for gene NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYPN Ellen McDonagh Source South West GLH was added to MYPN.
Mode of inheritance for gene MYPN was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYLK2 Ellen McDonagh Source South West GLH was added to MYLK2.
Mode of inheritance for gene MYLK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 JPH2 Ellen McDonagh Source South West GLH was added to JPH2.
Mode of inheritance for gene JPH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 DES Ellen McDonagh Source South West GLH was added to DES.
Mode of inheritance for gene DES was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 TTR Ellen McDonagh Source South West GLH was added to TTR.
Hypertrophic cardiomyopathy v1.45 FLNC Ellen McDonagh Source South West GLH was added to FLNC.
Hypertrophic cardiomyopathy v1.45 ACTA1 Ellen McDonagh Source South West GLH was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v1.45 ACTN2 Ellen McDonagh Source South West GLH was added to ACTN2.
Mode of inheritance for gene ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TPM1 Ellen McDonagh Source South West GLH was added to TPM1.
Mode of inheritance for gene TPM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TNNT2 Ellen McDonagh Source South West GLH was added to TNNT2.
Mode of inheritance for gene TNNT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TNNI3 Ellen McDonagh Source South West GLH was added to TNNI3.
Mode of inheritance for gene TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 TNNC1 Ellen McDonagh Source South West GLH was added to TNNC1.
Mode of inheritance for gene TNNC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 PRKAG2 Ellen McDonagh Source South West GLH was added to PRKAG2.
Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 PLN Ellen McDonagh Source South West GLH was added to PLN.
Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYL3 Ellen McDonagh Source South West GLH was added to MYL3.
Mode of inheritance for gene MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Hypertrophic cardiomyopathy v1.45 MYH6 Ellen McDonagh Source South West GLH was added to MYH6.
Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYH7 Ellen McDonagh Source South West GLH was added to MYH7.
Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 MYBPC3 Ellen McDonagh Source South West GLH was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 LAMP2 Ellen McDonagh Source South West GLH was added to LAMP2.
Hypertrophic cardiomyopathy v1.45 GLA Ellen McDonagh Source South West GLH was added to GLA.
Mode of inheritance for gene GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hypertrophic cardiomyopathy v1.45 FHL1 Ellen McDonagh Source South West GLH was added to FHL1.
Hypertrophic cardiomyopathy v1.45 CSRP3 Ellen McDonagh Source South West GLH was added to CSRP3.
Mode of inheritance for gene CSRP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.45 ACTC1 Ellen McDonagh Source South West GLH was added to ACTC1.
Mode of inheritance for gene ACTC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.44 TTR Ellen McDonagh edited their review of gene: TTR: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Hypertrophic cardiomyopathy v1.44 TCAP Ellen McDonagh reviewed gene: TCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYOZ2 Ellen McDonagh reviewed gene: MYOZ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 LDB3 Ellen McDonagh reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 GAA Ellen McDonagh reviewed gene: GAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 CRYAB Ellen McDonagh reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 CAV3 Ellen McDonagh reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 ANKRD1 Ellen McDonagh reviewed gene: ANKRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 NEXN Ellen McDonagh reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYPN Ellen McDonagh reviewed gene: MYPN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYLK2 Ellen McDonagh reviewed gene: MYLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 JPH2 Ellen McDonagh edited their review of gene: JPH2: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER
Hypertrophic cardiomyopathy v1.44 ACTN2 Ellen McDonagh reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 TPM1 Ellen McDonagh reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 TNNT2 Ellen McDonagh reviewed gene: TNNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 TNNI3 Ellen McDonagh reviewed gene: TNNI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 TNNC1 Ellen McDonagh reviewed gene: TNNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 PRKAG2 Ellen McDonagh reviewed gene: PRKAG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 PLN Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYL3 Ellen McDonagh reviewed gene: MYL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYL2 Ellen McDonagh reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYH7 Ellen McDonagh reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYH6 Ellen McDonagh reviewed gene: MYH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 MYBPC3 Ellen McDonagh reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 LAMP2 Ellen McDonagh reviewed gene: LAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 GLA Ellen McDonagh reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 FHL1 Ellen McDonagh reviewed gene: FHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 CSRP3 Ellen McDonagh reviewed gene: CSRP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.44 ACTC1 Ellen McDonagh reviewed gene: ACTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hypertrophic cardiomyopathy v1.43 TTR Ellen McDonagh Source London South GLH was added to TTR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.43 TCAP Ellen McDonagh Source London South GLH was added to TCAP.
Hypertrophic cardiomyopathy v1.43 MYOZ2 Ellen McDonagh Source London South GLH was added to MYOZ2.
Hypertrophic cardiomyopathy v1.43 LDB3 Ellen McDonagh Source London South GLH was added to LDB3.
Hypertrophic cardiomyopathy v1.43 GAA Ellen McDonagh Source London South GLH was added to GAA.
Hypertrophic cardiomyopathy v1.43 CRYAB Ellen McDonagh Source London South GLH was added to CRYAB.
Hypertrophic cardiomyopathy v1.43 CAV3 Ellen McDonagh Source London South GLH was added to CAV3.
Hypertrophic cardiomyopathy v1.43 ANKRD1 Ellen McDonagh Source London South GLH was added to ANKRD1.
Hypertrophic cardiomyopathy v1.43 NEXN Ellen McDonagh Source London South GLH was added to NEXN.
Hypertrophic cardiomyopathy v1.43 MYPN Ellen McDonagh Source London South GLH was added to MYPN.
Hypertrophic cardiomyopathy v1.43 MYLK2 Ellen McDonagh Source London South GLH was added to MYLK2.
Hypertrophic cardiomyopathy v1.43 JPH2 Ellen McDonagh Source London South GLH was added to JPH2.
Hypertrophic cardiomyopathy v1.43 ACTN2 Ellen McDonagh Source London South GLH was added to ACTN2.
Hypertrophic cardiomyopathy v1.43 TPM1 Ellen McDonagh Source London South GLH was added to TPM1.
Hypertrophic cardiomyopathy v1.43 TNNT2 Ellen McDonagh Source London South GLH was added to TNNT2.
Hypertrophic cardiomyopathy v1.43 TNNI3 Ellen McDonagh Source London South GLH was added to TNNI3.
Hypertrophic cardiomyopathy v1.43 TNNC1 Ellen McDonagh Source London South GLH was added to TNNC1.
Hypertrophic cardiomyopathy v1.43 PRKAG2 Ellen McDonagh Source London South GLH was added to PRKAG2.
Hypertrophic cardiomyopathy v1.43 PLN Ellen McDonagh Source London South GLH was added to PLN.
Hypertrophic cardiomyopathy v1.43 MYL3 Ellen McDonagh Source London South GLH was added to MYL3.
Hypertrophic cardiomyopathy v1.43 MYL2 Ellen McDonagh Source London South GLH was added to MYL2.
Hypertrophic cardiomyopathy v1.43 MYH7 Ellen McDonagh Source London South GLH was added to MYH7.
Hypertrophic cardiomyopathy v1.43 MYH6 Ellen McDonagh Source London South GLH was added to MYH6.
Hypertrophic cardiomyopathy v1.43 MYBPC3 Ellen McDonagh Source London South GLH was added to MYBPC3.
Hypertrophic cardiomyopathy v1.43 LAMP2 Ellen McDonagh Source London South GLH was added to LAMP2.
Hypertrophic cardiomyopathy v1.43 GLA Ellen McDonagh Source London South GLH was added to GLA.
Hypertrophic cardiomyopathy v1.43 FHL1 Ellen McDonagh Source London South GLH was added to FHL1.
Hypertrophic cardiomyopathy v1.43 CSRP3 Ellen McDonagh Source London South GLH was added to CSRP3.
Hypertrophic cardiomyopathy v1.43 ACTC1 Ellen McDonagh Source London South GLH was added to ACTC1.
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden Deleted their comment
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden commented on gene: MYH7: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).

See attached MYH7 guidelines (Kelly et al 2018), truncating variants are not a recognised mechanism for disease.
Hypertrophic cardiomyopathy v1.42 GLA James Eden edited their review of gene: GLA: Changed publications: 28369730, 27532257, 29649853, 27225851
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden Deleted their comment
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden edited their review of gene: MYH7: Added comment: Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).

See attached MYH7 guidelines (Kelly et al 2018), LOF is not a mechanism for disease.; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden edited their review of gene: MYH7: Changed publications: 28369730, 27532257, 29300372
Hypertrophic cardiomyopathy v1.42 VCL James Eden reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1W (611407), Cardiomyopathy, hypertrophic, 15 (613255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TPM1 James Eden reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Y (611878), Cardiomyopathy, hypertrophic, 3 (115196), Left ventricular noncompaction 9 ( 611878); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNT2 James Eden reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1D (601494), Cardiomyopathy, familial restrictive, 3 (612422), Cardiomyopathy, hypertrophic, 2 (115195), Left ventricular noncompaction 6 (601494); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNI3 James Eden reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 2A (611880), Cardiomyopathy, dilated, 1FF (613286), Cardiomyopathy, familial restrictive, 1 (115210), Cardiomyopathy, hypertrophic, 7 (613690); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TNNC1 James Eden reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1Z (611879), Cardiomyopathy, hypertrophic, 13 (613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 TCAP James Eden reviewed gene: TCAP: Rating: RED; Mode of pathogenicity: ; Publications: 15582318, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 25 (607487), Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 SLC25A4 James Eden reviewed gene: SLC25A4: Rating: RED; Mode of pathogenicity: ; Publications: 25732997, 27532257; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184), Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418), Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 PRKAG2 James Eden reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257, 28369730; Phenotypes: Cardiomyopathy, familial hypertrophic 6 (600858), Glycogen storage disease of heart, lethal congenital (261740), Wolff-Parkinson-White syndrome (194200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 PLN James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1P (609909), Cardiomyopathy, hypertrophic, 18 (613874); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 NEXN James Eden reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20970104, 27532257; Phenotypes: Cardiomyopathy, dilated, 1CC (613122), Cardiomyopathy, hypertrophic, 20 (613876); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYLK2 James Eden reviewed gene: MYLK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic (192600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYL3 James Eden reviewed gene: MYL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, familial hypertrophic, 8 (608751); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
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
Hypertrophic cardiomyopathy v1.42 MYH7 James Eden reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1S (613426), Cardiomyopathy, hypertrophic, 1 (192600), Laing distal myopathy (160500), Left ventricular noncompaction 5 (613426), Myopathy, myosin storage, autosomal dominant (608358), Myopathy, myosin storage, autosomal recessive (255160), Scapuloperoneal syndrome, myopathic type (181430); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYH6 James Eden reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: ; Publications: 22194935, 27532257; Phenotypes: Atrial septal defect 3 (614089), Cardiomyopathy, dilated, 1EE (613252), Cardiomyopathy, hypertrophic, 14 (613251), {Sick sinus syndrome 3} (614090); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 MYBPC3 James Eden reviewed gene: MYBPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Cardiomyopathy, dilated, 1MM (615396), Cardiomyopathy, hypertrophic, 4 (115197), Left ventricular noncompaction 10 (615396); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 LAMP2 James Eden reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Danon disease (300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 GLA James Eden reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Fabry disease (301500), Fabry disease, cardiac variant (301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 FHL1 James Eden reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Uruguay faciocardiomusculoskeletal syndrome (300280), Emery-Dreifuss muscular dystrophy 6, X-linked (300696), Myopathy, X-linked, with postural muscle atrophy (300696), Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717), Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718), Scapuloperoneal myopathy, X-linked dominant (300695); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 CSRP3 James Eden reviewed gene: CSRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: ?Cardiomyopathy, dilated, 1M (607482), Cardiomyopathy, hypertrophic, 12 (612124); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.42 ACTC1 James Eden reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28369730, 27532257; Phenotypes: Atrial septal defect 5 (612794), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.41 VCL Ellen McDonagh Source North West GLH was added to VCL.
Mode of inheritance for gene VCL was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiomyopathy, dilated, 1W (611407); Cardiomyopathy, hypertrophic, 15 (613255) for gene: VCL
Publications for gene VCL were changed from to 27532257; 28369730
Hypertrophic cardiomyopathy v1.41 TPM1 Ellen McDonagh Source North West GLH was added to TPM1.
Added phenotypes Left ventricular noncompaction 9 ( 611878); Cardiomyopathy, hypertrophic, 3 (115196); Cardiomyopathy, dilated, 1Y (611878) for gene: TPM1
Publications for gene TPM1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNT2 Ellen McDonagh Source North West GLH was added to TNNT2.
Added phenotypes Cardiomyopathy, familial restrictive, 3 (612422); Cardiomyopathy, hypertrophic, 2 (115195); Left ventricular noncompaction 6 (601494); Cardiomyopathy, dilated, 1D (601494) for gene: TNNT2
Publications for gene TNNT2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNI3 Ellen McDonagh Source North West GLH was added to TNNI3.
Mode of inheritance for gene TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 7 (613690); ?Cardiomyopathy, dilated, 2A (611880); Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, familial restrictive, 1 (115210) for gene: TNNI3
Publications for gene TNNI3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TNNC1 Ellen McDonagh Source North West GLH was added to TNNC1.
Added phenotypes Cardiomyopathy, dilated, 1Z (611879); Cardiomyopathy, hypertrophic, 13 (613243) for gene: TNNC1
Publications for gene TNNC1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 TCAP Ellen McDonagh Source North West GLH was added to TCAP.
Added phenotypes Cardiomyopathy, hypertrophic, 25 (607487); Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) for gene: TCAP
Publications for gene TCAP were changed from to 15582318; 27532257
Hypertrophic cardiomyopathy v1.41 SLC25A4 Ellen McDonagh Source North West GLH was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) for gene: SLC25A4
Publications for gene SLC25A4 were changed from to 25732997; 27532257
Hypertrophic cardiomyopathy v1.41 PRKAG2 Ellen McDonagh Source North West GLH was added to PRKAG2.
Added phenotypes Wolff-Parkinson-White syndrome (194200); Cardiomyopathy, familial hypertrophic 6 (600858); Glycogen storage disease of heart, lethal congenital (261740) for gene: PRKAG2
Publications for gene PRKAG2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 PLN Ellen McDonagh Source North West GLH was added to PLN.
Added phenotypes Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) for gene: PLN
Publications for gene PLN were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 NEXN Ellen McDonagh Source North West GLH was added to NEXN.
Added phenotypes Cardiomyopathy, dilated, 1CC (613122); Cardiomyopathy, hypertrophic, 20 (613876) for gene: NEXN
Publications for gene NEXN were changed from to 27532257; 20970104
Hypertrophic cardiomyopathy v1.41 MYLK2 Ellen McDonagh Source North West GLH was added to MYLK2.
Added phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) for gene: MYLK2
Publications for gene MYLK2 were changed from to 27532257; 28369730
Hypertrophic cardiomyopathy v1.41 MYL3 Ellen McDonagh Source North West GLH was added to MYL3.
Added phenotypes Cardiomyopathy, familial hypertrophic, 8 (608751) for gene: MYL3
Publications for gene MYL3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Hypertrophic cardiomyopathy v1.41 MYH7 Ellen McDonagh Source North West GLH was added to MYH7.
Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7
Publications for gene MYH7 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 MYH6 Ellen McDonagh Source North West GLH was added to MYH6.
Added phenotypes Cardiomyopathy, dilated, 1EE (613252); {Sick sinus syndrome 3} (614090); Cardiomyopathy, hypertrophic, 14 (613251); Atrial septal defect 3 (614089) for gene: MYH6
Publications for gene MYH6 were changed from 30531895; 28082330 to 27532257; 22194935
Hypertrophic cardiomyopathy v1.41 MYBPC3 Ellen McDonagh Source North West GLH was added to MYBPC3.
Added phenotypes Cardiomyopathy, hypertrophic, 4 (115197); Left ventricular noncompaction 10 (615396); Cardiomyopathy, dilated, 1MM (615396) for gene: MYBPC3
Publications for gene MYBPC3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 LAMP2 Ellen McDonagh Source North West GLH was added to LAMP2.
Added phenotypes Danon disease (300257) for gene: LAMP2
Publications for gene LAMP2 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 GLA Ellen McDonagh Source North West GLH was added to GLA.
Added phenotypes Fabry disease, cardiac variant (301500); Fabry disease (301500) for gene: GLA
Publications for gene GLA were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 FHL1 Ellen McDonagh Source North West GLH was added to FHL1.
Added phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718); ?Uruguay faciocardiomusculoskeletal syndrome (300280); Scapuloperoneal myopathy, X-linked dominant (300695); Myopathy, X-linked, with postural muscle atrophy (300696); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717); Emery-Dreifuss muscular dystrophy 6, X-linked (300696) for gene: FHL1
Publications for gene FHL1 were changed from http://www.ncbi.nlm.nih.gov/pubmed/22523091 to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 CSRP3 Ellen McDonagh Source North West GLH was added to CSRP3.
Added phenotypes Cardiomyopathy, hypertrophic, 12 (612124); ?Cardiomyopathy, dilated, 1M (607482) for gene: CSRP3
Publications for gene CSRP3 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.41 ACTC1 Ellen McDonagh Source North West GLH was added to ACTC1.
Added phenotypes Left ventricular noncompaction 4 (613424); Cardiomyopathy, dilated, 1R (613424); Cardiomyopathy, hypertrophic, 11 (612098); Atrial septal defect 5 (612794) for gene: ACTC1
Publications for gene ACTC1 were changed from to 27532257; 28369730
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.40 LZTR1 Anna de Burca gene: LZTR1 was added
gene: LZTR1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Literature
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: LZTR1 were set to 30368668; 30732632
Phenotypes for gene: LZTR1 were set to RASopathy-associated cardiomyopathy
Review for gene: LZTR1 was set to GREEN
Added comment: PMID:30368668 describes the clinical phenotype of 7 unrelated patients with Noonan or Noonan-like syndrome associated with monoallelic or biallelic variants in LZTR1. Five of the patients (one with biallelic variants and four with monoallelic variants) had hypertrophic cardiomyopathy. PMID:30732632 describes the phenotype in 46 unrelated children with RASopathy derived from a cohort of 168 paediatric HCM patients. One of the 46 children with RASopathy had compound heterozygous missense variants in LZTR1, although it is unclear whether this gene was tested in all participants, as it was not included in the exome-based 'expanded cardiomyopathy' panel applied. Given the phenotypic variability of Noonan syndrome, it seems plausible that mild cases could present with apparently isolated hypertrophic cardiomyopathy.
Sources: Literature
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Classified gene: TTR as Green List (high evidence)
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Added comment: Comment on list classification: Promoted to green following discussion with NHS GMS cardiology specialist group. Cardiac amyloidosis is associated with thickening of the ventricular wall which can resemble hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy v1.39 TTR Anna de Burca Gene: ttr has been classified as Green List (High Evidence).
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Hypertrophic cardiomyopathy v1.38 TTR Anna de Burca Phenotypes for gene: TTR were changed from syndromic HCM to Cardiac amyloidosis
Hypertrophic cardiomyopathy v1.37 TNNC1 Oxford Medical Genetics Laboratory edited their review of gene: TNNC1: Changed rating: GREEN
Hypertrophic cardiomyopathy v1.37 CSRP3 Oxford Medical Genetics Laboratory edited their review of gene: CSRP3: Changed rating: GREEN
Hypertrophic cardiomyopathy v1.36 MT-TI Ellen McDonagh Publications for gene: MT-TI were set to
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Added comment: Comment on list classification: New gene added to this panel after submission from the Oxford Medical Genetics Laboratory. Promoted from Red to Amber due to this new review and to raise in discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.35 MT-TI Ellen McDonagh Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Classified gene: TTR as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to new review and discussion with the NHSE GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.34 TTR Ellen McDonagh Gene: ttr has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.33 TTR Ellen McDonagh Publications for gene: TTR were set to
Hypertrophic cardiomyopathy v1.32 ACTN2 Ellen McDonagh Publications for gene: ACTN2 were set to
Hypertrophic cardiomyopathy v1.31 MYH6 Ellen McDonagh Publications for gene: MYH6 were set to
Hypertrophic cardiomyopathy v1.30 FLNC Ellen McDonagh Publications for gene: FLNC were set to
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Classified gene: FLNC as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Added comment: Comment on list classification: Promoted this gene from Red to Amber for discussion with the NHS GMS Cardiology specialist group.
Hypertrophic cardiomyopathy v1.29 FLNC Ellen McDonagh Gene: flnc has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v1.28 MT-TI Oxford Medical Genetics Laboratory reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: ; Publications: Publications supporting role of this gene in HCM - PMID: 12767666, PMID: 30025578 ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Hypertrophic cardiomyopathy v1.28 TTR Oxford Medical Genetics Laboratory edited their review of gene: TTR: Added comment: pathogenic variants in this gene cause Hereditary TTR amyloidosis. Affected individuals can present with left ventricular hypertrophy (LVH) that can mimic HCM. Recent study (PMID:28475415) found pathogenic varaint in this gene in 0.6% individuals in HCM cohort (n=697); Changed rating: GREEN; Changed publications: Publications supporting role of this gene in HCM - PMID: 28475415, PMID:16115295, PMID:16194874, PMID:26537620, PMID:1626570, PMID:1570831; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 FLNC Oxford Medical Genetics Laboratory edited their review of gene: FLNC: Added comment: Amber gene. For discussion. High background rate of missense variants in reference popualtions in this gene; therefore rare missense variants detected in patients are .are generally uninterpretable and classified as VUS. Heterozygous LOF variants well-established and quite frequent in DCM however we have also found putative LOF variants in HCM patients although these are rare. Another gene where we need more data... ; Changed rating: AMBER; Changed publications: Publications supporting role of this gene in HCM - PMID:25351925, PMID:28356264, Publications questioning role of this gene in HCM - PMID:30411535; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 ACTN2 Oxford Medical Genetics Laboratory edited their review of gene: ACTN2: Added comment: Amber gene. For discussion. A very small number of missense variant (n=2) have been show to segreate with atypical cardiac phenotypes-not specifically HCM. ClinGen have labelled this an intrinsic cardiomyoapthy gene. Missense variants (other than the 2 reported in the literature with segregation) are generally uninterpretable and so classified as VUS. In previous case vs control analyses (Walsh et al PMID -27532257) we did not detect a burden of rare missense variants in this gene in cases (HCM or DCM) compared to reference cohorts. However we have emerging evidence from our cohort that heterozygous LOF(including large scale deletions and duplications) variants in this gene may be pathogenic. At present not a Green gene but perhaps worthy of further investigation.; Changed rating: AMBER; Changed publications: Publications supporting role of this gene in HCM - [PMID: 25224718, PMID: 25173926, PMID: 20022194 ; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.28 MYH6 Oxford Medical Genetics Laboratory edited their review of gene: MYH6: Added comment: There is no robust evidence to support variants in this gene causing HCM. This gene should not be included in clinical HCM panels.; Changed publications: Publications questioning role of this gene in HCM - PMID: 30531895, PMID: 28082330; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 MT-TI Ellen McDonagh gene: MT-TI was added
gene: MT-TI was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Hypertrophic cardiomyopathy v1.27 TTR Ellen McDonagh Source Wessex and West Midlands GLH was added to TTR.
Mode of inheritance for gene TTR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 FLNC Ellen McDonagh Source Wessex and West Midlands GLH was added to FLNC.
Mode of inheritance for gene FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy v1.27 ACTN2 Ellen McDonagh Source Wessex and West Midlands GLH was added to ACTN2.
Hypertrophic cardiomyopathy v1.27 MYH6 Ellen McDonagh Source Wessex and West Midlands GLH was added to MYH6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as No list
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Hypertrophic cardiomyopathy v1.25 FXN_GAA Louise Daugherty Str: fxn_gaa has been removed from the panel.
Hypertrophic cardiomyopathy v1.24 FXN_GAA Louise Daugherty Normal Number of Repeats for FXN_GAA was changed from 33 to 44.
Hypertrophic cardiomyopathy v1.23 MT-TL1 Ellen McDonagh gene: MT-TL1 was added
gene: MT-TL1 was added to Hypertrophic cardiomyopathy - teen and adult. Sources: Expert Review
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Added comment: This gene was suggested by Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan) to be added to this panel. Comments from Dr Atsuko Okazaki: "Among our ~2000 patients, certain numbers of hypertrophic cardiomyopathy patients have m.3243A>G mutation in MT-TL1 with high heteroplasty rate in the heart. Although reporting mitochondrial DNA mutations with their pathogenicity is always challenging due to the heteroplasty rate in affected organs, I think it might be one possibility to let clinicians know that m.3243A>G is a causative mutation for hypertrophic cardiomyopathy if mutation rate is high in the heart."
Sources: Expert Review
Hypertrophic cardiomyopathy v1.22 Ellen McDonagh Panel name changed from Hypertrophic Cardiomyopathy to Hypertrophic cardiomyopathy - teen and adult
List of related panels changed from HCM to Hypertrophic Cardiomyopathy; HCM
Panel types changed to Rare Disease 100K; GMS Rare Disease
Hypertrophic cardiomyopathy FXN Ellen McDonagh Added STR to panel
Hypertrophic cardiomyopathy ATP5E Louise Daugherty commented on ATP5E
Hypertrophic cardiomyopathy TSFM Helen Brittain marked TSFM as ready
Hypertrophic cardiomyopathy TSFM Helen Brittain classified TSFM as Red List (low evidence)
Hypertrophic cardiomyopathy SLC25A3 Helen Brittain marked SLC25A3 as ready
Hypertrophic cardiomyopathy SLC25A3 Helen Brittain classified SLC25A3 as Red List (low evidence)
Hypertrophic cardiomyopathy MYH6 Ian Berry reviewed MYH6
Hypertrophic cardiomyopathy TSFM Ian Berry reviewed TSFM
Hypertrophic cardiomyopathy SLC25A3 Ian Berry reviewed SLC25A3
Hypertrophic cardiomyopathy CSRP3 Ian Berry reviewed CSRP3
Hypertrophic cardiomyopathy JPH2 Ellen McDonagh reviewed JPH2
Hypertrophic cardiomyopathy TSFM Sarah Leigh commented on TSFM
Hypertrophic cardiomyopathy TSFM Sarah Leigh classified TSFM as green
Hypertrophic cardiomyopathy SLC25A3 Sarah Leigh classified SLC25A3 as green
Hypertrophic cardiomyopathy SLC25A3 Sarah Leigh commented on SLC25A3
Hypertrophic cardiomyopathy FXN Alice Gardham commented on FXN