Ocular coloboma
Gene: TCTN2EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 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, 11:41 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from the literature.Created: 16 Mar 2016, 12:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Meckel-Gruber 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
- UKGTN
- Emory Genetics Laboratory
- Expert Review
- Phenotypes
-
- Joubert syndrome
- Meckel-Gruber syndrome
- OMIM
- 613846
- Clinvar variants
- Variants in TCTN2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Ocular coloboma
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
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)TCTN2 was added to Ocular colobomapanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)TCTN2 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN2 was added to Ocular colobomapanel. Sources: Expert Review