Renal ciliopathies
Gene: TULP3
TULP3 (tubby like protein 3)
EnsemblGeneIds (GRCh38): ENSG00000078246
EnsemblGeneIds (GRCh37): ENSG00000078246
OMIM: 604730, Gene2Phenotype
TULP3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000078246
EnsemblGeneIds (GRCh37): ENSG00000078246
OMIM: 604730, Gene2Phenotype
TULP3 is in 5 panels
1 review
Aakash Joshi (St George's Hospital)
TULP3 is known to cause a renal cystic disease phenotype but recent literature has identified that it is associated with transporting integral membrane and membrane-associated lipidated proteins into the cilia (PMCID 11742108 and PMCID 12432116). It would therefore fit with a renal ciliopathy and is also known to cause liver fibrosis and some evidence to suggest it has been associated with skeletal features (PMCID 12432116).
Sources: LiteratureCreated: 19 Oct 2026, 10:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
renal cysts; renal ciliopathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- renal cysts
- renal ciliopathy
- OMIM
- 604730
- Clinvar variants
- Variants in TULP3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
19 Oct 2026, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Aakash Joshi (St George's Hospital)gene: TULP3 was added gene: TULP3 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to PMCID 11742108; PMCID 12432116 Phenotypes for gene: TULP3 were set to renal cysts; renal ciliopathy Penetrance for gene: TULP3 were set to Complete Review for gene: TULP3 was set to GREEN