| Panel | Mode of inheritance | Details |
|---|---|---|
7 panels | ||
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 2.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 AD, Spinocerebellar ataxia, autosomal recessive 1 606002 AR |
Component of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Ataxia-ocular apraxia-2, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia |
R-numbers: R57 Signed-off version 2.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Autosomal recessive spinocerebellar ataxia type 1, 606002, Ataxia-ocular apraxia-2 |
R-numbers: R78 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Charcot-Marie-Tooth disease, Hereditary ataxia, Amyotrophic lateral sclerosis/motor neuron disease |
R-numbers: R58 Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 |