Structural eye disease
Gene: TCTN3EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Wang: knockout mice have microphthalmia, otherwise only reported in Joubert syndrome cases without colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18; Orofaciodigital syndrome IV; 614815; 258860
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wang: knockout mice have microphthalmia, otherwise only reported in Joubert syndrome cases without colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Joubert syndrome
- Orofaciodigital syndrome IV
- Joubert syndrome 18, 614815
- Orofaciodigital syndrome IV, 258860
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Retinal disorders
- Clefting
- Ophthalmological ciliopathies
- Cystic kidney disease
- Renal ciliopathies
- Ocular coloboma
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Neurological ciliopathies
- Glaucoma (developmental)
- Limb disorders
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TCTN3. Added phenotypes Joubert syndrome 18, 614815; Orofaciodigital syndrome IV, 258860 for gene: TCTN3 Publications for gene TCTN3 were changed from 25118024 to 29725084; 25118024
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TCTN3 was added gene: TCTN3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 25118024 Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV