SCUBE3

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green SCUBE3 in Mendeliome Version 1.2302	1 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 0.302	1 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 0.260	1 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	1 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 1.313	1 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