Hypertrophic cardiomyopathy

Gene: TULP3

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Reviewers note that a few patients have LVH in addition to presenting ciliopathy, but isolated HCM is not the presenting feature and therefore this gene is not suitable for the HCM panel.

Created: 6 Dec 2024, 6:49 p.m. | Last Modified: 6 Dec 2024, 6:49 p.m.

Panel Version: 4.19

Green List (high evidence)

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

• 35397207
• 36460032

Red List (low evidence)

3 cases of hypertrophic cardiomyopathy reported by Devane et al. PMID 35397207
Sources: Expert list

Created: 9 Apr 2023, 8:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypertrophic cardiomyopathy; cystic kidney disease; congenital hepatic fibrosis

Publications

• 35397207