Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
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 Poor weight gain, microcephaly, epilepsy, developmental delay, lack of speech, intellectual disability |
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, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes ?Beukes Hip Dysplasia OMIM:142669, hip dysplasia, Beukes type MONDO:0007726, ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974, spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702 |