Motor Neurone Disease

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

>10 individuals from 4 unrelated families with ALS

PMID: 24562058
Identified homozygous truncating mutation with parents confirmed to be unaffected heterozygous carriers. 
2 unrelated consanguineous families 
Individuals had muscle weakness and muscle biopsy showing angular atrophic fibres with a dystonia phenotype and profound muscle atrophy

PMID: 11586298
>8 individuals from two unrelated families with ALS2 mutations and ALS phenotypes
Created: 17 May 2023, 12:26 a.m. | Last Modified: 17 May 2023, 12:26 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)

Publications

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

>50 variants reported in multiple individuals with Infantile onset ascending spastic paralysis, mostly originated from the Middle East and Mediterranean countries.
Sources: Literature
Created: 17 Aug 2021, 1:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Infantile onset ascending spastic paralysis (MIM#607225); Juvenile amyotrophic lateral sclerosis 2 (MIM#205100); Juvenile primary lateral sclerosis (MIM#606353)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100
  • MONDO: MONDO:0008780)
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 May 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)

30 May 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALS2 were set to

30 May 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALS2 was added gene: ALS2 was added to Motor neuron disease MND_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: ALS2 was set to Unknown