Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 7.19 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.48 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.54 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 |
R-numbers: R78 Signed-off version 6.163 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, OMIM:618170, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MONDO:0100095 |