Unexplained kidney failure in young people
Gene: TCTN3
TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Fetal anomalies
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Renal ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Osteogenesis imperfecta
- Neurological ciliopathies
- Clefting
- Limb disorders
- Retinal disorders
- Cystic kidney disease
- Ocular coloboma
- Unexplained kidney failure in young people
- Ductal plate malformation
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
History Filter Activity
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)TCTN3 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)TCTN3 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red