SETX

PanelMode of inheritanceDetails
7 panels
R-numbers: R39
Signed-off version 1.2
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:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
R-numbers: R54
Signed-off version 2.13
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 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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 2.178
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433