Renal ciliopathies and nephronophthisis_KidGen_VCGS
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Skeletal ciliopathies
- Clefting
- Tubulointerstitial kidney disease
- Retinal disorders
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Structural eye disease
- Extreme early-onset hypertension
- Cystic kidney disease
- Unexplained kidney failure in young people
- Limb disorders
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Proteinuric renal disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TTC21B was added gene: TTC21B was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TTC21B was set to Unknown