Structural eye disease
Gene: TSPAN12

TSPAN12 (tetraspanin 12)
EnsemblGeneIds (GRCh38): ENSG00000106025
EnsemblGeneIds (GRCh37): ENSG00000106025
OMIM: 613138, Gene2Phenotype
TSPAN12 is in 3 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 5; 613310

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Exudative vitreoretinopathy 5, 613310

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

Panel version: 0.48

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Red

Phenotypes

Exudative vitreoretinopathy 5, 613310
Eye Disorders

OMIM

613138

Clinvar variants

Variants in TSPAN12

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TSPAN12. Mode of inheritance for gene TSPAN12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Exudative vitreoretinopathy 5, 613310 for gene: TSPAN12

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TSPAN12 was added gene: TSPAN12 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TSPAN12 was set to Phenotypes for gene: TSPAN12 were set to Eye Disorders

Structural eye disease Gene: TSPAN12