Adult onset neurodegenerative disorder
Gene: ALS2

ALS2 (ALS2, alsin Rho guanine nucleotide exchange factor)
EnsemblGeneIds (GRCh38): ENSG00000003393
EnsemblGeneIds (GRCh37): ENSG00000003393
OMIM: 606352, Gene2Phenotype
ALS2 is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Previously called ALS2. ALS phenotype with juvenile onset (age range 3-23) or infantile onset ascending spastic paralysis. The disorder was characterized by progressive spasticity of the limb, facial, and pharyngeal muscles with spastic gait and spastic dysarthria. At least 3 cases - green
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.

Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

11586298

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.

Panel Version: 1.101

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.

Created: 23 Apr 2019, 5:35 p.m.

Panel version: 1.101

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Apr 2019, 5:31 p.m.

Panel version: 1.10

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Wessex and West Midlands GLH
Yorkshire and North East GLH
NHS GMS
London North GLH
Expert Review Green

Phenotypes

Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100
Primary lateral sclerosis, juvenile, OMIM:606353

OMIM

606352

Clinvar variants

Variants in ALS2

Penetrance

None

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 Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353

29 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

2 Sep 2019, Gel status: 3