Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: ALS2

Green List (high evidence)

ALS2 (ALS2, alsin Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000003393
EnsemblGeneIds (GRCh37): ENSG00000003393
OMIM: 606352, Gene2Phenotype
ALS2 is in 11 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

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

History Filter Activity

21 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: als2 has been classified as Green List (High Evidence).

21 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353 (3) to ALS2-related motor neuron disease (MONDO:0100227)

21 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ALS2 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALS2 was added gene: ALS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)