Panel | Mode of inheritance | Details |
---|---|---|
7 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 |
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 Ceroid lipofuscinosis, neuronal, 1 256730 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730, NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 (CLN1) |
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 Ceroid lipofuscinosis, neuronal, 1 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 1 OMIM:256730, neuronal ceroid lipofuscinosis 1 MONDO:0009744 |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 1 OMIM:256730, neuronal ceroid lipofuscinosis 1 MONDO:0009744 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 1, 256730 |