TULP3

TUB like protein 3
OMIM: 604730, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber TULP3 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902

Green TULP3 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902

Green TULP3 in Liver Failure_Paediatric


Level 2: Gastroenterological disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902

Green TULP3 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902