Prepair 1000+

Gene: ALS2

Green List (high evidence)

Well established gene-disease associations, likely represent a spectrum of a single disorder rather than distinct disorders (ZS). Variable age of onset and severity. >50 variants reported in multiple individuals with Infantile onset ascending spastic paralysis, mostly originating from the Middle East and Mediterranean countries.

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is an autosomal recessive neurodegenerative disorder characterized by onset in the first years of life of progressive upper and lower motor neuron degeneration resulting in loss of ability to walk in childhood. Primary lateral sclerosis is characterized by degeneration of the upper motor neurons and the corticospinal and corticobulbar tracts, whereas, Amyotrophic lateral sclerosis is a more severe disorder characterized by degeneration of both the upper and lower motor neurons.

HGNC approved symbol/name: ALS2
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: Juvenile amyotrophic lateral sclerosis 2 is not listed as a phenotype on the prepair1000+ PDF gene list.

Created: 7 Nov 2024, 5:41 a.m. | Last Modified: 7 Nov 2024, 5:41 a.m.

Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALS2-related motor neuron disease (MONDO:0100227)

Publications

• 24315819
• 12601111
• 30128655
• 33409823