SCUBE3

signal peptide, CUB domain and EGF like domain containing 3
OMIM: 614708, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SCUBE3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184
  • Short stature
  • skeletal abnormalities
  • craniofacial abnormalities
  • dental anomalies

Green SCUBE3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184
  • Short stature
  • skeletal abnormalities
  • craniofacial abnormalities
  • dental anomalies

Amber SCUBE3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184

Green SCUBE3 in Growth failure


Version 1.76

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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 SCUBE3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
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