Panel | Mode of inheritance | Details |
---|---|---|
10 panels | ||
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spinocerebellar ataxia 7 (#607998), Neuronal ceroid lipfuscinosis 7 (204500) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 2 204500 |
R-numbers: R54 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270, Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270, Neuronal ceroid lipofuscinosis, 204500 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500, NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2) |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Intellectual disability, Ceroid lipofuscinosis, neuronal, 2, CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal), Hereditary ataxia |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500, neuronal ceroid lipofuscinosis 2 MONDO:0008769 |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500, neuronal ceroid lipofuscinosis 2 MONDO:0008769 |
R-numbers: R271 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Retinal disordersR-numbers: R32 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 2, 204500 |