Retinal disorders
Gene: TSPAN12
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
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.
Phenotypes for gene: TSPAN12 were changed from Eye Disorders to Eye Disorders; Exudative vitreoretinopathy 5, OMIM:613310
Source NHS GMS was added to TSPAN12. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for TSPAN12 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Mode of inheritance for TSPAN12 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TSPAN12 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green
TSPAN12 was created by ellenmcdonagh