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Dilated and arrhythmogenic cardiomyopathy v2.22 | MYZAP | Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: MYZAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.22 | MYZAP | Arina Puzriakova Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.22 | MYZAP | Arina Puzriakova Publications for gene: MYZAP were set to 34899865; 20093627; 35840178 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Classified gene: MYZAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Added comment: Comment on list classification: New gene added to the panel by Aleš Maver. MYZAP is not yet associated with any phenotype in OMIM or Gene2Phenoype. At least three unrelated families have been reported with biallelic LOF variants in MYZAP and a phenotype of DCM (PMIDs: 34899865; 35840178; 38436102). Studies in zebrafish and mice demonstrate the link between MYZAP and cardiomyopathy (PMIDs: 20093627; 24698889). Overall, the evidence is sufficient to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Gene: myzap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Classified gene: MYZAP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Added comment: Comment on list classification: New gene added to the panel by Aleš Maver. MYZAP is not yet associated with any phenotype in OMIM or Gene2Phenoype. At least three unrelated families have been reported with biallelic LOF variants in MYZAP and a phenotype of DCM (PMIDs: 34899865; 35840178; 38436102). Studies in zebrafish and mice demonstrate the link between MYZAP and cardiomyopathy (PMIDs: 20093627; 24698889). Overall, the evidence is sufficient to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v2.21 | MYZAP | Arina Puzriakova Gene: myzap has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v1.31 | MYZAP | Ivone Leong Phenotypes for gene: MYZAP were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v1.30 | MYZAP | Ivone Leong Added comment: Comment on mode of pathogenicity: Changed from "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments" to "Other". LOF does cause phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v1.30 | MYZAP | Ivone Leong Mode of pathogenicity for gene: MYZAP was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v1.29 | MYZAP | Ivone Leong Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Dilated and arrhythmogenic cardiomyopathy v1.28 | MYZAP |
Aleš Maver changed review comment from: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and doi:10.1101/mcs.a006221). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families. Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes. Sources: Other; to: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and PMID:35840178). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families. Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in PMID:35840178 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes. Sources: Other |
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Dilated and arrhythmogenic cardiomyopathy v1.28 | MYZAP |
Aleš Maver changed review comment from: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221). Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes. Sources: Other; to: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in three families altogether with recessive dilated cardiomyopathy (DCM) (PMID:34899865 and doi:10.1101/mcs.a006221). Altogether, 8 patients with DCM and biallelic LOF variants are reported in the three published families. Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes. Sources: Other |
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Dilated and arrhythmogenic cardiomyopathy v1.28 | MYZAP |
Aleš Maver gene: MYZAP was added gene: MYZAP was added to Dilated cardiomyopathy - adult and teen. Sources: Other Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYZAP were set to 34899865; doi:10.1101/mcs.a006221 Phenotypes for gene: MYZAP were set to Dilated cardiomyopathy Penetrance for gene: MYZAP were set to unknown Mode of pathogenicity for gene: MYZAP was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: MYZAP was set to RED Added comment: Two independent publications reported the presence of biallelic loss-of-function variants in MYZAP gene in, altogether, three families (altogether 8 patients with DCM) with recessive dilated cardiomyopathy (DCM) (34899865;doi:10.1101/mcs.a006221). Functional studies published previously linked the loss of MYZAP protein to DCM in zebrafish (PMID:20093627). Functional studies of the variant reported in 10.1101/mcs.a006221 have shown that the variant led to lower force and longer time to peak contraction and relaxation consistent with severe contractile dysfunction in the patient-derived iPSC cardiomyocytes. Sources: Other |