Ductal plate malformation
Gene: TULP3
PMID:35397207 reported individuals from eight unrelated families with biallelic variants in TULP3 gene and presenting with liver phenotypes, out of which at least one individual from five different families had hepatic fibrosis. In addition, experiments in TULP3 knockout zebrafish models showed that significant cytoplasmic clearing of the hepatocytes indicating steatosis was present in livers.
PMID:36276950 reported two sisters with fibrocystic renal and hepatic disease harboring a homozygous missense mutation in TULP3 (p.Arg382Trp). In addition, experiments with inner medullary collecting duct-3 cells expressing the TULP3 R382W patient variant showed that this variant had a severely reduced ability to localise membrane-associated proteins to the cilium, consistent with a loss of TULP3 function.
PMID:36460032 reported two cases with biallelic variants in TULP3 (patient A: homozygous; patient B: compound heterozygous) and patient A had liver fibrosis in addition to cystic kidney disease.
This gene has been associated with relevant phenotypes in OMIM (MIM #619902), but not in Gene2Phenotype.Created: 25 May 2023, 10:27 a.m. | Last Modified: 25 May 2023, 10:27 a.m.
Panel Version: 1.19
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hepatorenocardiac degenerative fibrosis, OMIM:619902
Publications
Congenital hepatic fibrosis and ductal plate malformation is a common phenotype
See OMIM 604730
Sources: Expert listCreated: 7 Apr 2023, 4:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy
Publications
Gene: tulp3 has been classified as Green List (High Evidence).
Publications for gene: TULP3 were set to 36460032; 36276950; 35397207
Phenotypes for gene: TULP3 were changed from cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy to Hepatorenocardiac degenerative fibrosis, OMIM:619902
gene: TULP3 was added gene: TULP3 was added to Ductal plate malformation. Sources: Expert list Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 36460032; 36276950; 35397207 Phenotypes for gene: TULP3 were set to cystic kidney disease; ductal plate malformation; congentital hepatic fibrosis; cardiomyopathy Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to GREEN