Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 6.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental disorder with sleep apnea |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes KCNK3-related developmental disorder (monoallelic) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental disorder with sleep apnea |
Green in Pulmonary arterial hypertensionR-numbers: R188 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Idiopathic pulmonary arterial hypertension, IPAH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension, Pulmonary hypertension, primary, 4, 615344 |