Corneal abnormalities
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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Expert review green and more than 3 cases from different families reported. At least 4 different variants reported.
Created: 15 Feb 2017, 5:46 p.m.

Created: 15 Feb 2017, 5:46 p.m.

Panel version: 0.46

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)

Publications

22686506

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel
Radboud University Medical Center, Nijmegen

Phenotypes

Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458

OMIM

607512

Clinvar variants

Variants in ADAMTS18

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

15 Feb 2017, Gel status: 4