This Panel is marked as Internal
Renal and urinary tract disorders
Gene: TTC21B
TTC21B (tetratricopeptide repeat domain 21B)
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
3 reviews
Miranda Durkie (Genetics)
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 613820Created: 5 Aug 2016, 12:46 p.m.
Comment on phenotypes: Also associated with Short-rib thoracic dysplasia 4 with or without polydactyly 613819Created: 5 Aug 2016, 12:46 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Nephronophthisis.Created: 10 May 2016, 1:06 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- Nephronophthisis 12 613820
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Skeletal ciliopathies
- Clefting
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Extreme early-onset hypertension
- Unexplained kidney failure in young people
- Ductal plate malformation
- Proteinuric renal disease
- Cystic kidney disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
30 Jan 2019, Gel status: 4
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: TTC21B were changed from Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 12 to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 12 613820
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Nephronophthisis 12 for gene: TTC21B
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTC21B was added gene: TTC21B was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were set to Ciliopathy genes associated with cystic kidney disease