Genomics England
GMS Panels
Panels
Genes and Entities

ADAMTSL4

ADAMTS like 4
OMIM: 610113
PanelMode of inheritanceDetails
2 panels
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectopia lentis 225200/225100, craniosynostosis with ectopia lentis, MONDO:0011347
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectopia lentis et pupillae, 225200, Ectopia lentis, isolated, autosomal recessive, 225100