| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hypertrophic cardiomyopathy v4.1 | TULP3 |
Achchuthan Shanmugasundram changed review comment from: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions.; to: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions. PMID:36460032 reported an individual with compound heterozygous variants in TULP3 gene and with left ventricular hypertrophy in addition to kidney cysts and liver fibrosis. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.1 | TULP3 | Achchuthan Shanmugasundram changed review comment from: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models recapitulated the phenotypes observed in patients including the kidney cysts.; to: PMID:35397207 reported 15 individuals from eight unrelated families with biallelic variants in TULP3 gene, out of which three individuals from two different families were reported with hypertrophic non-obstructive cardiomyopathy. In addition, experiments in TULP3 knockout zebrafish models showed that no aberrant morphological features were found in the heart tissue, and histological examination found no indication of fibrosis or underlying cellular disruptions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.53 | BRAF | Rebecca Whittington commented on gene: BRAF: Cardiofaciocutaneous syndrome (115150) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | BRAF | Rebecca Whittington commented on gene: BRAF: Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | BRAF | Rebecca Whittington reviewed gene: BRAF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | BRAF |
Ellen McDonagh Source South West GLH was added to BRAF. Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||