Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 8.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental disorder with sleep apnea |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes KCNK3-related developmental disorder (monoallelic) |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.80 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Neurodevelopmental disorder, MONDO:0700092, KCNK3-related |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.134 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental disorder with sleep apnea |
Green in Pulmonary arterial hypertensionR-numbers: R188 Signed-off version 3.8 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Pulmonary hypertension, primary, 4, OMIM:615344 |