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| Hypertrophic cardiomyopathy v4.6 | TULP3 | Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TULP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.4 | TULP3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three cases with cardiac hypertrophy and hence this gene can be promoted to GREEN rating at the next major update.; to: Comment on list classification: There are three cases reported with cardiac phenotype and hence this gene can be promoted to GREEN rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.4 | TULP3 | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TULP3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.4 | TULP3 | Achchuthan Shanmugasundram Phenotypes for gene: TULP3 were changed from hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis to Hepatorenocardiac degenerative fibrosis, OMIM:619902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.3 | TULP3 | Achchuthan Shanmugasundram Publications for gene: TULP3 were set to 35397207 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.2 | TULP3 | Achchuthan Shanmugasundram Classified gene: TULP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.2 | TULP3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three cases with cardiac hypertrophy and hence this gene can be promoted to GREEN rating at the next major update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.2 | TULP3 | Achchuthan Shanmugasundram Gene: tulp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
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| Hypertrophic cardiomyopathy v4.1 | TULP3 | Achchuthan Shanmugasundram edited their review of gene: TULP3: Changed publications to: 35397207, 36460032 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v4.1 | TULP3 | Achchuthan Shanmugasundram reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35397207; Phenotypes: Hepatorenocardiac degenerative fibrosis, OMIM:619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v4.1 | TULP3 |
John Sayer gene: TULP3 was added gene: TULP3 was added to Hypertrophic cardiomyopathy. Sources: Expert list Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 35397207 Phenotypes for gene: TULP3 were set to hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to RED Added comment: 3 cases of hypertrophic cardiomyopathy reported by Devane et al. PMID 35397207 Sources: Expert list |
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