Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Salt and pepper developmental regression syndrome 609056, Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AMISH INFANTILE EPILEPSY SYNDROME 319543 |
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 Salt and pepper developmental regression syndrome 609056 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Salt and pepper developmental regression syndrome, 609056, Developmental regression, Intellectual disability |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation), Salt and pepper developmental regression syndrome 609056, GM3 synthase deficiency (Disorders of complex lipid synthesis) |