Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Congenital myopathyComponent of the following Super Panels:
R-numbers: R81 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural features |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature |
Green in Paediatric motor neuronopathiesComponent of the following Super Panels:
Signed-off version 3.8 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Koolen-De Vries syndrome, OMIM:610443, Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature |