This Panel is marked as Internal
Joubert syndrome
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
1 review
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from the literature.Created: 16 Mar 2016, 11:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- OMIM
- 609863
- Clinvar variants
- Variants in TCTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal dysplasia
- Retinal disorders
- Neurological ciliopathies
- Dystonia, chorea or related movement disorder, childhood onset
- Intellectual disability
- Ocular coloboma
- Renal ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Fetal anomalies
- Structural eye disease
- Rare multisystem ciliopathy disorders
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Cystic kidney disease
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
16 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)TCTN1 was created by PennyC
16 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)TCTN1 was added to Joubert syndromepanel. Sources: Expert Review