Genomics England
GMS Panels
Panels
Genes and Entities

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3
OMIM: 614708
PanelMode of inheritanceDetails
2 panels
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184, short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
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
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184, short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953