| Panel | Mode of inheritance | Details |
|---|---|---|
4 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083 |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Succinic semialdehyde dehydrogenase deficiency OMIM:271980, succinic semialdehyde dehydrogenase deficiency MONDO:0010083 |