This Panel is marked as Internal
Renal and urinary tract disorders
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 608132
- Clinvar variants
- Variants in TTC8
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Bardet Biedl syndrome
- Limb disorders
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Retinal disorders
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
30 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: Accounts for 2-3% cases BB
20 Dec 2018, Gel status: 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: TTC8
20 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TTC8 was added gene: TTC8 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: TTC8 was set to Unknown Phenotypes for gene: TTC8 were set to Ciliopathy genes associated with cystic kidney disease