Ocular coloboma
Gene: TCTN1EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:40 a.m.
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
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Joubert syndrome
- OMIM
- 609863
- Clinvar variants
- Variants in TCTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Intellectual disability
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Fetal anomalies
- Cystic kidney disease
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Upload gene information
Alice Gardham (Genomics England)TCTN1 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)TCTN1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN1 was added to Ocular colobomapanel. Sources: Expert Review