PLXND1:Ensemblv90

plexin D1
OMIM: 604282, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PLXND1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 9, MIM# 620294

Green PLXND1 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Möbius syndrome, MONDO:0008006
  • Congenital heart defects, multiple types, 9, MIM# 620294

Green PLXND1 in Congenital ophthalmoplegia


Level 2: Ophthalmological disorders
Version 1.14

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Möbius syndrome

Green PLXND1 in Fetal anomalies


Version 1.482

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects, multiple types, 9, MIM# 620294

Green PLXND1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Congenital heart defects, multiple types, 9, MIM# 620294

Green PLXND1 in Congenital ophthalmoplegia


Level 2: Ophthalmological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Möbius syndrome