| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCHINDLER DISEASE 609241, KANZAKI DISEASE 609242 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCHINDLER DISEASE, KANZAKI DISEASE |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schindler disease, type I, 609241, seizures |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kanzaki disease |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241, KANZAKI DISEASE (KANZD) |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schindler disease, type I OMIM:609241, Schindler disease, type III OMIM:609241, alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221, Kanzaki disease OMIM:609242, alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222 |