Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
R-numbers: R57 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive MONDO:0060629 |
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254, intellectual disability, autosomal dominant 8 MONDO:0013655 |