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| Dilated Cardiomyopathy v1.4 | JPH2 | Zornitza Stark Phenotypes for gene: JPH2 were changed from dilated cardiomyopathy to Cardiomyopathy, dilated, 2E, MIM# 619492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.3 | JPH2 | Zornitza Stark edited their review of gene: JPH2: Changed phenotypes: Cardiomyopathy, dilated, 2E, MIM# 619492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.136 | JPH2 | Zornitza Stark Publications for gene: JPH2 were set to PMID: 31227780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.135 | JPH2 | Zornitza Stark Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.134 | JPH2 | Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.134 | JPH2 | Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.133 | JPH2 |
Zornitza Stark changed review comment from: Gene is also associated with HCM. Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; to: Gene is also associated with HCM. Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models. MODERATE by ClinGen. |
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| Dilated Cardiomyopathy v0.133 | JPH2 |
Zornitza Stark edited their review of gene: JPH2: Added comment: Gene is also associated with HCM. Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; Changed rating: AMBER; Changed publications: 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Tag founder tag was added to gene: JPH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Marked gene: JPH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Added comment: Comment when marking as ready: Likely founder effect. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Gene: jph2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Classified gene: JPH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.36 | JPH2 | Zornitza Stark Gene: jph2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.35 | JPH2 |
Ain Roesley gene: JPH2 was added gene: JPH2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: JPH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JPH2 were set to PMID: 31227780 Phenotypes for gene: JPH2 were set to dilated cardiomyopathy Review for gene: JPH2 was set to AMBER Added comment: 2 consanguineous Iranian families with DCM, harbouring homozygous p.(E641*) with healthy carriers reported. Sources: Literature |
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