Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 607941 |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes ?Testicular anomalies with or without congenital heart disease, OMIM:615542 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neonatal diabetes, Pancreatic agenesis and/or congenital heart defects, Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes) |
Green in Neonatal diabetesR-numbers: R143 Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, MONDO:0010802, permanent neonatal diabetes melllitus, MONDO:0100164, Transient neonatal diabetes mellitus (disease), MONDO:0020525 |