Panel | Mode of inheritance | Details |
---|---|---|
12 panels | ||
R-numbers: R58 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease, type C1, OMIM:257220, Niemann-Pick disease, type D, OMIM:257220 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease types C1 and D (#257220) |
R-numbers: R57 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease, type C1, 257220, Niemann-Pick disease, type D, 257220 |
Green in CholestasisR-numbers: R171 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease, type D, 257220, Niemann-Pick disease type C1, 257220, Neonatal and Adult Cholestasis |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C1 257220 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C1 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease type C1, 257220, Niemann-Pick disease types C1 and D (#257220) |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes NIEMANN-PICK DISEASE, TYPE C1 |
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 Niemann-Pick disease, type C1 |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Niemann-Pick disease, type D OMIM:257220, Niemann-Pick disease, type C1 OMIM:257220, Niemann-Pick disease, type C1 MONDO:0009757 |
Green in Niemann Pick disease type CR-numbers: R380 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Very Early Onset Inflammatory Bowel Disease |