Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCHINDLER DISEASE 609241, KANZAKI DISEASE 609242 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schindler disease, type I, 609241, seizures |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCHINDLER DISEASE, KANZAKI DISEASE |
R-numbers: R78 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kanzaki disease, 609242, Kanzaki disease. Adult onset diffuse angiokeratoma, sensory-neural hearing loss, recurrent episodes of vertigo, sensory-motor axonal neuropathy. Periventricular white matter abnormalities on MRI |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Schindler disease, type I, 609241Kanzaki disease, 609242Schindler disease, type III, 609241, KANZAKI DISEASE (KANZD) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Kanzaki disease |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | 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 |