Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001, ATRIOVENTRICULAR SEPTAL DEFECT 5 614474, ATRIAL SEPTAL DEFECT 9 614475 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ATRIAL SEPTAL DEFECT 9, PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS, ATRIOVENTRICULAR SEPTAL DEFECT 5 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pancreatic agenesis and congenital heart defects, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pancreatic agenesis and congenital heart defects, OMIM:600001, neonatal diabetes mellitus, MONDO:0016391 |