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Retinal disorders

Gene: TSPAN12

Green List (high evidence)
TSPAN12 (tetraspanin 12)
EnsemblGeneIds (GRCh38): ENSG00000106025
EnsemblGeneIds (GRCh37): ENSG00000106025
OMIM: 613138, Gene2Phenotype
TSPAN12 is in 3 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Exudative vitreoretinopathy 5

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:30 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: PMID: 22427576 shows recessive variants can also cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
Created: 13 Jun 2016, 4:15 p.m.
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:05 a.m.
Created: 2 Jun 2016, 8:05 a.m.

Panel version: 0.201

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Eye Disorders
  • Exudative vitreoretinopathy 5, OMIM:613310
OMIM
613138
Clinvar variants
Variants in TSPAN12
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: TSPAN12 were changed from Eye Disorders to Eye Disorders; Exudative vitreoretinopathy 5, OMIM:613310

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TSPAN12. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TSPAN12 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

23 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Mar 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TSPAN12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TSPAN12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TSPAN12 was created by ellenmcdonagh