Retinal disorders
Gene: ADAMTS18

ADAMTS18 (ADAM metallopeptidase with thrombospondin type 1 motif 18)
EnsemblGeneIds (GRCh38): ENSG00000140873
EnsemblGeneIds (GRCh37): ENSG00000140873
OMIM: 607512, Gene2Phenotype
ADAMTS18 is in 4 panels

2 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

Ellen McDonagh (Genomics England Curator)

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.

Created: 15 Mar 2016, 10:35 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Genetic Retinal Degeneration Conditions
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458

OMIM

607512

Clinvar variants

Variants in ADAMTS18

Penetrance

Complete

Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ADAMTS18. Rating Changed from Green List (high evidence) to Green List (high evidence)

15 Mar 2016, Gel status: 4