AEBP1:Ensemblv90

AE binding protein 1
OMIM: 602981, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green AEBP1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

Green AEBP1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

Green AEBP1 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 1.4

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2 MIM#618000
  • Classical-like EDS

Green AEBP1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000

Green AEBP1 in Ehlers Danlos syndromes


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome, classic-like, 2 MIM#618000
  • Classical-like EDS