Liver Failure_Paediatric
Gene: TULP3EnsemblGeneIds (GRCh38): ENSG00000078246
EnsemblGeneIds (GRCh37): ENSG00000078246
OMIM: 604730, Gene2Phenotype
TULP3 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hepatorenocardiac degenerative fibrosis, MIM# 619902
Chirag Patel (Genetic Health Queensland)
15 individuals from eight unrelated families with bi-allelic variants in TULP3 were detected. The affected individuals reported are mostly adults, in the 3rd through 7th decades of life, and presented with progressive degenerative liver fibrosis, then variable fibrocystic kidney disease and then hypertrophic cardiomyopathy. The human phenotype was recapitulated in adult zebrafish and confirmed disruption of critical ciliary cargo composition in several primary cell lines derived from affected individuals. Some G-P correlation with 2 x PTV leading to childhood disease (<10yrs), and 2 x missense variants leading to adult onset disease (>20yrs).
Sources: LiteratureCreated: 7 Jul 2022, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045
Publications
- PMID: 35397207
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Hepatorenocardiac degenerative fibrosis, MIM# 619902
- OMIM
- 604730
- Clinvar variants
- Variants in TULP3
- Penetrance
- None
- Publications
-
- PMID: 35397207
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tulp3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: tulp3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: TULP3 was added gene: TULP3 was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to PMID: 35397207 Phenotypes for gene: TULP3 were set to progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 Review for gene: TULP3 was set to GREEN gene: TULP3 was marked as current diagnostic