| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypertrophic cardiomyopathy v2.0 | MYH7 | Gene migrated from ENSG00000092054 to ENSG00000092054 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.31 | MYH7B | Zornitza Stark Classified gene: MYH7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.31 | MYH7B | Zornitza Stark Gene: myh7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.30 | MYH7B | Zornitza Stark All sources for gene: MYH7B were removed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.29 | MYH7B | Zornitza Stark edited their review of gene: MYH7B: Changed publications: 32207065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.29 | MYH7B | Zornitza Stark Marked gene: MYH7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.29 | MYH7B | Zornitza Stark Gene: myh7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.29 | MYH7B | Zornitza Stark Phenotypes for gene: MYH7B were changed from Hypertrophic cardiomyopathy, MONDO:0005045, MYH7B-related; Hearing loss disorder, MONDO:0005365, MYH7B-related to Hypertrophic cardiomyopathy, MONDO:0005045, MYH7B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.28 | MYH7B | Zornitza Stark Publications for gene: MYH7B were set to 36963494; 32207065; 26752647; 25528277 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.27 | MYH7B |
Zornitza Stark changed review comment from: PMID 32207065 reports 4 families with heterozygous MYH7B loss‑of‑function variants causing hypertrophic cardiomyopathy (HCM) and provides variant‑specific expression loss plus a Myh7b knockout rat model. PMID 36963494 and PMID 25528277 describe the same autosomal‑recessive MYH7B hearing‑loss family (3 affected siblings) and present biochemical assays for two missense variants, expanding the phenotypic spectrum to severe sensorineural hearing loss with ocular anomalies. PMID 26752647 reports a homozygous missense MYH7B variant in a child with arthrogryposis and cardiomyopathy, adding a novel recessive syndrome. The bi-allelic association is RED.; to: PMID 32207065 reports 4 families with heterozygous MYH7B loss‑of‑function variants causing hypertrophic cardiomyopathy (HCM) and provides variant‑specific expression loss plus a Myh7b knockout rat model. |
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| Hypertrophic cardiomyopathy v1.27 | Zornitza Stark Copied gene MYH7B from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.27 | MYH7B |
Zornitza Stark gene: MYH7B was added gene: MYH7B was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH7B were set to 36963494; 32207065; 26752647; 25528277 Phenotypes for gene: MYH7B were set to Hypertrophic cardiomyopathy, MONDO:0005045, MYH7B-related; Hearing loss disorder, MONDO:0005365, MYH7B-related |
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| Hypertrophic cardiomyopathy v0.89 | MYOZ2 |
Paul De Fazio changed review comment from: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. A review of the literature finds no other reports.; to: Limited evidence by ClinGen working group. Via ClinGen: Only one family (segregation in 5 members) has convincing association with disease. Other reports were either for variants that have population frequency suggesting benignity or in a proband where a variant in MYH7 was also found. Studies in mice of two of these variants showed that they developed cardiac hypertrophy with preserved systolic function. A review of the literature finds no other reports. |
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| Hypertrophic cardiomyopathy v0.61 | MYH7 | Zornitza Stark Marked gene: MYH7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.61 | MYH7 | Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.61 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, hypertrophic, 1, MIM# 192600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.60 | MYH7 | Zornitza Stark Publications for gene: MYH7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.59 | MYH7 | Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.28 | MYH7 | Ivan Macciocca reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30681346; Phenotypes: hypertrophic cardiomyopathy, LVNC, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.0 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH7 was set to Unknown |
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