IQGAP1

IQ motif containing GTPase activating protein 1
OMIM: 603379, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber IQGAP1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.13

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Tetralogy of Fallot MONDO:0008542

Amber IQGAP1 in Mendeliome


Version 2.356

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tetralogy of Fallot MONDO:0008542
  • Annular Pancreas MONDO:0008183