Incidentalome

Gene: SETX

Green List (high evidence)

PMID: 15106121
Reported a number of individuals with slowly progressive motor neuropathy.
age of onset is typically before the age of 25 years with slow progression and a normal life span.

PMID: 9497266
1 large family with multiple affected individuals with ALS type phenotype

Created: 18 May 2023, 3:16 a.m. | Last Modified: 18 May 2023, 3:16 a.m.

Panel Version: 0.138

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophic Lateral Sclerosis 4, juvenile (MIM#602433)

Publications

• 15106121
• 9497266

Red List (low evidence)

No evidence dementia or cognitive decline is a prominent feature of the conditions caused by this gene.

Created: 6 Feb 2020, 6:02 a.m. | Last Modified: 6 Feb 2020, 6:02 a.m.

Panel Version: 0.8

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 4, juvenile MIM#602433; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002

Publications

• 24694197