Retinal disorders
Gene: TCTN1
TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 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
- 609863
- Clinvar variants
- Variants in TCTN1
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TCTN1.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TCTN1 was created by ellenmcdonagh