TULP3

tubby like protein 3
OMIM: 604730, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green TULP3 in Ductal plate malformation


Version 1.31

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, OMIM:619902
Amber TULP3 in Hypertrophic cardiomyopathy


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Hepatorenocardiac degenerative fibrosis, OMIM:619902
    Green TULP3 in Cystic kidney disease


    Level 2: Renal
    Version 8.5
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hepatorenocardiac degenerative fibrosis, OMIM:619902
    Red TULP3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Hepatorenocardiac degenerative fibrosis, OMIM:619902