Unexplained kidney failure in young people
Gene: TTC21BAdded the watchlist_moi tag. It appears that monoallelic variants are potential genetic modifiers and are found in combination with variants in other renal disease associated genes (see PMID: 26940125, PMID: 21258341) but no current evidence that monoallelic variants alone are associated with disease.Created: 28 Sep 2022, 8:45 p.m. | Last Modified: 28 Sep 2022, 8:45 p.m.
Panel Version: 1.116
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Nephronophthisis 12 613820Created: 5 Aug 2016, 12:46 p.m.
Comment on phenotypes: Also associated with Short-rib thoracic dysplasia 4 with or without polydactyly 613819Created: 5 Aug 2016, 12:46 p.m.
Tag watchlist_moi tag was added to gene: TTC21B.
Phenotypes for gene: TTC21B were changed from Nephronophthisis 12 613820 to Nephronophthisis 12 613820
Promoted to version 1 17th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TTC21B were set to Nephronophthisis 12 613820
TTC21B was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for TTC21B were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 12 613820
TTC21B was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
TTC21B was created by sleigh