HAAO

3-hydroxyanthranilate 3,4-dioxygenase
OMIM: 604521, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HAAO in Congenital anomalies of the kidney and urinary tract (CAKUT) Level 2: Renal and urinary tract disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Green HAAO in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660 Atrial septal defect Hypoplastic left heart syndrome Aortic stenosis Mitral stenosis Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis Lsvc and left pulmonary artery arising from the ductus arteriosus Shone syndrome with aortic coarctation
Green HAAO in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency
Green HAAO in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM# 617660
Green HAAO in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency
Green HAAO in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1 617660
Green HAAO in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554