Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501 |
R-numbers: R61 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity. |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ventriculomegaly and arthrogryposis, OMIM:619501 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296 |
Green in Severe early-onset obesityR-numbers: R149 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 |