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Fetal anomalies

Gene: ALS2

Red List (low 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)

Red List (low evidence)

Progressive neurological condition, onset is post-natal.
Created: 23 Nov 2019, 7:08 a.m. | Last Modified: 29 Dec 2021, 2:53 a.m.
Panel Version: 0.1619

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paralysis, infantile onset ascending, MIM#607225

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Spastic paralysis, infantile onset ascending, MIM#607225
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
None
Panels with this gene

History Filter Activity

29 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: als2 has been classified as Red List (Low Evidence).

29 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALS2 were changed from ALS2-RELATED DISORDERS to Spastic paralysis, infantile onset ascending, MIM#607225

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS