Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 |
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, 10, 610127 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 |
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, 10, 610127, NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 (CLN10) |
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, 10, 610127 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 10 OMIM:610127, neuronal ceroid lipofuscinosis 10 MONDO:0012414 |
Green in Neuronal ceroid lipofuscinosisR-numbers: R231 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ceroid lipofuscinosis, neuronal, 10 OMIM:610127, neuronal ceroid lipofuscinosis 10 MONDO:0012414 |
Green in Retinal disordersR-numbers: R32 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Eye Disorders, Ceroid lipofuscinosis, neuronal, 10, 610127 |