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 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Asparagine synthetase deficiency OMIM:615574 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Asparagine synthetase deficiency 615574 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Asparagine synthetase deficiency, 615574, congenital microcephaly, intellectual disability, progressive cerebral atrophy, intractable seizures |