Groopman et al 2019 - Genes with diagnostic variants
Gene: TTC21B

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

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Nephropathy of unknown origin
Nephronophthisis 12
MIM 613820

OMIM

612014

Clinvar variants

Variants in TTC21B

Penetrance

None

Panels with this gene

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

Groopman et al 2019 - Genes with diagnostic variants Gene: TTC21B