Unexplained kidney failure in young people
Gene: TCTN1
TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 609863
- Clinvar variants
- Variants in TCTN1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
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)TCTN1 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)TCTN1 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red