Genomics England
GMS Panels
Panels
Genes and Entities

ADAMTSL2

ADAMTS like 2
OMIM: 612277
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geleophysic dysplasia 1 231050
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Geleophysic dysplasia 1 231050