Early-onset Dementia
Gene: ALS2EnsemblGeneIds (GRCh38): ENSG00000003393
EnsemblGeneIds (GRCh37): ENSG00000003393
OMIM: 606352, Gene2Phenotype
ALS2 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Cognition is reportedly unaffected in individuals with biallelic mutations that have been diagnosed with ALS. One missense VUS has been reported in a case with FTD. Limitied evidence that dementia or cognitive decline is a feature of the conditions caused by this gene.Created: 5 Feb 2020, 6:04 a.m. | Last Modified: 5 Feb 2020, 6:04 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 2, juvenile MIM#205100; Primary lateral sclerosis, juvenile MIM#606353; Spastic paralysis, infantile onset ascending MIM#607225
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- OMIM
- 606352
- Clinvar variants
- Variants in ALS2
- Penetrance
- None
- Panels with this gene
-
- Motor Neurone Disease
- Mackenzie's Mission_Reproductive Carrier Screening
- Early-onset Dementia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: als2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: als2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: als2 has been classified as Red List (Low Evidence).
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 Early-onset Dementia_MGHA_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