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| Hypertrophic cardiomyopathy_HCM v0.162 | TRIM63 | Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Marked gene: TRIM63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Classified gene: TRIM63 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.103 | TRIM63 | Zornitza Stark Gene: trim63 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy_HCM v0.89 | TRIM63 |
Ain Roesley changed review comment from: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature; to: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - segregated in 3 families - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature |
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| Hypertrophic cardiomyopathy_HCM v0.89 | TRIM63 |
Ain Roesley gene: TRIM63 was added gene: TRIM63 was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature Mode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRIM63 were set to 30681346; 32451364 Phenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy Penetrance for gene: TRIM63 were set to unknown Review for gene: TRIM63 was set to GREEN Added comment: PMID: 30681346; LIMITED by Clingen working group (last evaluated 2018) PMID: 32451364 - 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD. - 1 index had another pathogenic truncating variant in MYBPC3 - 5 missense and 3 PTCs - Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy Sources: Literature |
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