ATE1

arginyltransferase 1
OMIM: 607103, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red ATE1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.509

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Congenital heart disease, MONDO:0005453
Tags
  • disputed

Red ATE1 in Mendeliome


Version 1.3741

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Red
  • Expert Review Red
  • ClinGen
Phenotypes
  • Congenital heart disease, MONDO:0005453
Tags
  • disputed