Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Adult onset leukodystrophyR-numbers: R62 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593 |
R-numbers: R78 Signed-off version 3.24 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287, Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593 |
Component of the following Super Panels:
Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593 |