Ocular coloboma
Gene: TCTN3EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Expert recommendation to leave red as low frequency associationCreated: 18 Jan 2017, 11:44 a.m.
Comment on list classification: Only reported in three Joubert patients. Not recognised on G2P as causing Joubert.Created: 1 Dec 2016, 10:52 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.Created: 16 Mar 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Orofaciodigital syndrome IV
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
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert Review
- Phenotypes
-
- Joubert syndrome
- Orofaciodigital syndrome IV
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Rare multisystem ciliopathy disorders
- 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 Amber List (Moderate Evidence).
Upload gene information
Alice Gardham (Genomics England)TCTN3 was added to Ocular colobomapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)TCTN3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN3 was added to Ocular colobomapanel. Sources: Expert Review