Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CHKA-related neurodevelopmental disorder |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, Microcephaly, Abnormality of movement, Abnormality of nervous system morphology, Short stature |