Genomics England
GMS Panels
Panels
Genes and Entities

ADAMTS18

ADAM metallopeptidase with thrombospondin type 1 motif 18
OMIM: 607512
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KNOBLOCH SYNDROME 2 608454
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions, Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458