Retinal disorders
Gene: TCTN2
TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
1 review
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Joubert gene - no retinal phenotype?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Eye Disorders
- OMIM
- 613846
- Clinvar variants
- Variants in TCTN2
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ocular coloboma
- Limb disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Intellectual disability
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TCTN2.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN2 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TCTN2 was created by ellenmcdonagh