Retinal disordersGene: TEAD1
only one icelandic mutation
Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Only appears to be a single publication linking this gene to a retinal phenotype. We have not identified mutations in this gene in-house. Insufficient evidence to move this to the green list.
Created: 1 Jun 2016, 11:47 a.m.
Mode of inheritance
Sveinsson chorioretinal atrophy
Variants in this GENE are reported as part of current diagnostic practice
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, 8:06 a.m.
Comment on list classification: One large Icelandic pedigree, and functional studies reported in OMIM. May only be a founder variant?
Created: 23 Mar 2016, 11:30 a.m.
Source NHS GMS was added to TEAD1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for TEAD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TEAD1 was created by ellenmcdonagh
TEAD1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green