Motor Neurone Disease
Gene: ALS2
>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 phenotypesCreated: 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
>50 variants reported in multiple individuals with Infantile onset ascending spastic paralysis, mostly originated from the Middle East and Mediterranean countries.
Sources: LiteratureCreated: 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
Gene: als2 has been classified as Green List (High Evidence).
Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780)
Publications for gene: ALS2 were set to
Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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