Groopman et al 2019 - Genes with diagnostic variants

Gene: TTC21B

Red List (low evidence)

TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 22 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: TTC21B; Inheritance: AR; Clinical diagnosis: Nephropathy of unknown origin; Genetic diagnosis: Nephronophthisis 12; OMIM phenotype MIM number: 613820; Number of cases: 1 (compound heterozygous)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to TTC21B.

2 Jul 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TTC21B was added gene: TTC21B was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Nephropathy of unknown origin; Nephronophthisis 12; MIM 613820