Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Acute rhabdomyolysisR-numbers: R419 Signed-off version 1.7 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carnitine deficiency, systemic primary, OMIM:212140 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.79 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 |
Component of the following Super Panels:
R-numbers: R98 Signed-off version 4.78 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919 |
Component of the following Super Panels:
R-numbers: R135 Signed-off version 3.44 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919 |
Component of the following Super Panels:
Signed-off version 3.39 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Carnitine deficiency, systemic primary, OMIM:212140, systemic primary carnitine deficiency disease, MONDO:0008919 |