Hypertrophic cardiomyopathy
Gene: TULP3
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.Created: 23 May 2023, 9:03 a.m. | Last Modified: 23 May 2023, 9:05 a.m.
Panel Version: 4.4
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.Created: 23 May 2023, 8:43 a.m. | Last Modified: 23 May 2023, 9:01 a.m.
Panel Version: 4.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hepatorenocardiac degenerative fibrosis, OMIM:619902
Publications
3 cases of hypertrophic cardiomyopathy reported by Devane et al. PMID 35397207
Sources: Expert listCreated: 9 Apr 2023, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis
Publications
Tag Q2_23_NHS_review tag was added to gene: TULP3.
Tag Q2_23_promote_green tag was added to gene: TULP3.
Phenotypes for gene: TULP3 were changed from hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Publications for gene: TULP3 were set to 35397207
Gene: tulp3 has been classified as Amber List (Moderate Evidence).
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