Cystic kidney disease
Gene: TTC8
TTC8 (tetratricopeptide repeat domain 8)
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000165533
EnsemblGeneIds (GRCh37): ENSG00000165533
OMIM: 608132, Gene2Phenotype
TTC8 is in 20 panels
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Skeletal dysplasia
- Cystic kidney disease
- DDG2P
- Fetal anomalies
- Skeletal ciliopathies
- Intellectual disability
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe early-onset obesity
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TTC8 was added to Cystic kidney diseasepanel. Sources: Expert