Activity
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11 actions
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| Hypertrophic cardiomyopathy_HCM v0.167 | FHOD3 | Zornitza Stark Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.166 | FHOD3 | Chern Lim reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32335906, 33586461, 30442288, 28991257; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.156 | FHOD3 | Zornitza Stark Phenotypes for gene: FHOD3 were changed from Hypertrophic cardiomyopathy to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.155 | FHOD3 | Zornitza Stark reviewed gene: FHOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic, 28, MIM# 619402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.115 | FHOD3 | Seb Lunke Marked gene: FHOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.115 | FHOD3 | Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Tag SV/CNV tag was added to gene: FHOD3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Classified gene: FHOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.114 | FHOD3 | Seb Lunke Gene: fhod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | FHOD3 |
Ain Roesley changed review comment from: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM patients with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature; to: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM probands with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature |
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| Hypertrophic cardiomyopathy_HCM v0.89 | FHOD3 |
Ain Roesley gene: FHOD3 was added gene: FHOD3 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FHOD3 were set to 32335906; 31742804; 30442288 Phenotypes for gene: FHOD3 were set to Hypertrophic cardiomyopathy Penetrance for gene: FHOD3 were set to unknown Review for gene: FHOD3 was set to GREEN Added comment: PMID: 32335906; Deletion of exon 15-16 in 3 families PMID: 31742804 - 7 affecteds in a 3-generation family, het for p.(Ser527del) - 1 genotype positive, phenotype negative family member - 3 other SNVs associated with heart development and morphogenesis were identified in the proband but were absent in the other affected subjects PMID: 30442288; - 60 HCM patients with no other variants in other sarcomeric genes - segregation of likely path/path variants were definitive/likely in 17 families (4 of which are part of a large pedigree) Sources: Literature |
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