Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CystinosisR-numbers: R334 Signed-off version 1.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750, CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900, CYSTINOSIS NEPHROPATHIC TYPE 219800 |
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 Cystinosis, atypical nephropathic |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cystinosis, atypical nephropathic OMIM:219800, Cystinosis, nephropathic OMIM:219800, Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900, Cystinosis, ocular nonnephropathic OMIM:219750, nephropathic cystinosis MONDO:0100151, juvenile nephropathic cystinosis MONDO:0009066, ocular cystinosis MONDO:0009064 |
Green in Renal tubulopathiesR-numbers: R198 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cystinosis, atypical nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900, Cystinosis, nephropathic 219800, Cystinosis, ocular nonnephropathic 219750 |
R-numbers: R257 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Cystinosis, atypical nephropathic 219800, Cystinosis, nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900 |