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  3. ALS2
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Cerebral Palsy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Phenotypic overlap with CP.
Sources: Expert Review
Created: 18 Sep 2021, 1:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paralysis, infantile onset ascending, MIM# 607225

Publications

Created: 18 Sep 2021, 1:50 a.m.

Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic paralysis, infantile onset ascending, MIM# 607225
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2021, 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).

18 Sep 2021, 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).

18 Sep 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALS2 was added gene: ALS2 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALS2 were set to 12145748; 33409823; 30128655 Phenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, MIM# 607225 Review for gene: ALS2 was set to GREEN