Retinal disorders
Gene: ADAMTS18
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, 8:03 a.m.
Comment on mode of inheritance: Confirmed on OMIM and G2P.Created: 15 Mar 2016, 10:35 a.m.
Phenotypes for gene: ADAMTS18 were changed from Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus to Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Source NHS GMS was added to ADAMTS18. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for ADAMTS18 were set to Genetic Retinal Degeneration Conditions; Microcornea, myopic chorioretinal atrophy, and telecanthus
Mode of inheritance for ADAMTS18 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for ADAMTS18 was changed to BIALLELIC, autosomal or pseudoautosomal
ADAMTS18 was created by ellenmcdonagh
ADAMTS18 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green