Unexplained kidney failure in young people
Gene: TTC21B

TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Added 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

Created: 28 Sep 2022, 8:45 p.m.
Last Modified: 28 Sep 2022, 8:45 p.m.
Panel version: 1.116

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reported in Nephronophthisis 12 613820
Created: 5 Aug 2016, 12:46 p.m.

Comment on phenotypes: Also associated with Short-rib thoracic dysplasia 4 with or without polydactyly 613819
Created: 5 Aug 2016, 12:46 p.m.

Created: 5 Aug 2016, 12:46 p.m.

Panel version: 0.274

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory
Expert

Phenotypes

Nephronophthisis 12 613820

Tags

watchlist_moi

OMIM

612014

Clinvar variants

Variants in TTC21B

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Sep 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag watchlist_moi tag was added to gene: TTC21B.

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TTC21B were changed from Nephronophthisis 12 613820 to Nephronophthisis 12 613820

17 Aug 2016, Gel status: 4