Tubulointerstitial kidney disease

Gene: TTC21B

Green List (high evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:TTC21B;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Nephronopthisis 12 MIM 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819

History Filter Activity

2 Feb 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TTC21B was added gene: TTC21B was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TTC21B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819; Nephronopthisis 12 MIM 613820