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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. |
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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 |
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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 |
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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. |
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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) |
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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) |
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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 |
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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. |
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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. |
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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. |
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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) |
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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. |
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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 |
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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. |
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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. |
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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. |
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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 |
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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 |
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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 |
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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 |
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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) |
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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) |
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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) |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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. |
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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 |
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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 |
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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) |
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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) |
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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) |
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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) |
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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 |
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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 |
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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) |
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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) |
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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 |
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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 |
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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) |
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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) |
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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) |
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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 |
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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) |
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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) |
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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) |
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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) |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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) |
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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 |
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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 |
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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 |