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Hereditary spastic paraplegia

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 9 panels

1 review

Richard Scott (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
607225

Publications

Created: 9 Feb 2017, 9:35 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100
  • Primary lateral sclerosis, juvenile, OMIM:606353
  • Spastic paralysis, infantile onset ascending, OMIM:607225
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALS2 were changed from 607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353; Spastic paralysis, infantile onset ascending, OMIM:607225

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Feb 2017, Gel status: 0

Added New Source

Richard Scott (Genomics England Curator)

ALS2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list

9 Feb 2017, Gel status: 0

Created

Richard Scott (Genomics England Curator)

ALS2 was created by richardhywel