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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 v2.15 | 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 v1.81 | MYH7 | Ivone Leong reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.65 | MYH7 | Ivone Leong Publications for gene: MYH7 were set to 27532257; 28369730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.53 | MYH7 | Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, hypertrophic, 1 (192600 ) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | MYH7 | Rebecca Whittington commented on gene: MYH7: Sarcomeric HCM genes - well established gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.51 | 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 v1.50 | 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 v1.45 | 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 v1.44 | MYH7 | Ellen McDonagh reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.43 | MYH7 | Ellen McDonagh Source London South GLH was added to MYH7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | 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 | 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 v1.41 | 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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