Genomics England
GMS Panels
Panels
Genes and Entities

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3
OMIM: 614708
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SCUBE3-related developmental disorder
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
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 Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
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 8.0
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