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  3. TCTN1
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Structural eye disease

Gene: TCTN1

Red List (low evidence)
TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 13; 614173

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 13, 614173

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TCTN1. Added phenotypes Joubert syndrome 13, 614173 for gene: TCTN1 Publications for gene TCTN1 were changed from 21725307; 22693042 to 22693042; 21725307

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TCTN1 was added gene: TCTN1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 21725307; 22693042 Phenotypes for gene: TCTN1 were set to Joubert syndrome