Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes distal arthrogryposis, MONDO:0019942 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ACTC1-related distal arthrogryposis with congenital heart disease |
Component of the following Super Panels:
R-numbers: R132 Signed-off version 2.32 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardiomyopathy, hypertrophic, 11 (612098), Left ventricular noncompaction 4 (613424), Cardiomyopathy, dilated, 1R (613424), Cardiomyopathy, dilated, 1R, Atrial septal defect 5 (612794) |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Atrial septal defect 5 612794 |
Green in Hypertrophic cardiomyopathyComponent of the following Super Panels:
R-numbers: R131 Signed-off version 4.16 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Cardiomyopathy, familial hypertrophic, 11, Atrial septal defect 5 (612794), Left ventricular noncompaction 4 (613424), Cardiomyopathy, hypertrophic, 11 (612098), Cardiomyopathy, dilated, 1R (613424), Hypertrophic Cardiomyopathy |
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Atrial septal defect 5, Cardiomyopathy, hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left ventricular noncompaction 4 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Hypertrophic Cardiomyopathy, Cardiomyopathy, familial hypertrophic, 11, Cardiomyopathy, dilated, 1R, Left Ventricular Noncompaction Cardiomyopathy, Left ventricular noncompaction 4 |