Kidneyome_SuperPanel_KidGen_VCGS
Gene: TTC21BEnsemblGeneIds (GRCh38): ENSG00000123607
EnsemblGeneIds (GRCh37): ENSG00000123607
OMIM: 612014, Gene2Phenotype
TTC21B is in 19 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Nephronophthisis 12, MIM#613820
- OMIM
- 612014
- Clinvar variants
- Variants in TTC21B
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Structural eye disease
- Fetal anomalies
- Skeletal ciliopathies
- Retinal disorders
- Clefting
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Renal ciliopathies
- Extreme early-onset hypertension
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- Rare multisystem ciliopathy disorders
- Proteinuric renal disease
History Filter Activity
Added New Source, Set mode of inheritance, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to TTC21B. Mode of inheritance for gene TTC21B was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to TTC21B. Source Victorian Clinical Genetics Services was added to TTC21B. Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Nephronophthisis 12, MIM#613820 for gene: TTC21B Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TTC21B was added gene: TTC21B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: KidGen_CilioNephronop v38.1.0,Expert Review Green Mode of inheritance for gene: TTC21B was set to Unknown