Proteinuric renal disease
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
1 review
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: TTC21B; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 26940125; PMID: 24876116 ; Other comments: Multiple reports in the literature of gene associated with nephronophthisis. Unclear of association with proteinuric renal diseaseCreated: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 12 # 613820
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Sources
-
- NHS GMS
- Phenotypes
-
- Nephronophthisis 12 # 613820
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Unexplained kidney failure in young people
- Limb disorders
- Clefting
- Retinal disorders
- Extreme early-onset hypertension
- Ductal plate malformation
- Skeletal ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Proteinuric renal disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12 # 613820
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: TTC21B were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: TTC21B was added gene: TTC21B was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: TTC21B was set to