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  2. Paediatric motor neuronopathies
  3. ALS2
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Paediatric motor neuronopathies

Gene: ALS2

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

3 reviews

Pinki Munot (Consultant )

I don't know

only a few families reported; need more evidence for neuronopathy,
has a more upper motor neuron phenotype with progressive dystonia and spasticity
Created: 2 Mar 2017, 6:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile ALS

Publications

Created: 2 Mar 2017, 6:51 p.m.

Panel version: 0.89

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as amber because of the predominant upper motor neuron involvement
Created: 7 Mar 2017, 12:28 p.m.
Comment when marking as ready: Marked as amber because of the predominant upper motor neuron involvement
Created: 7 Mar 2017, 12:28 p.m.
Biallelic mutations in this gene cause upper motor neuron syndromes with bulbar involvement
Created: 31 Jan 2017, 1:31 p.m.
Biallelic mutations in this gene cause upper motor neuron syndromes with bulbar involvement
Created: 31 Jan 2017, 1:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paralysis, infantile onset ascending, 607225; Primary lateral sclerosis, juvenile 606353

Created: 31 Jan 2017, 1:31 p.m.

Panel version: 0.89

Alice Gardham (Genomics England)

Green List (high evidence)

infantile-onset ascending spastic paralysis, 607225 is an allelic disorders with overlapping phenotype. Offered on UKGTN. Recognised on G2P
Created: 2 Nov 2016, 12:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
juvenile amyotrophic lateral sclerosis-2, 205100

Publications

Created: 2 Nov 2016, 12:59 p.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
Phenotypes
  • Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100
  • Spastic paralysis, infantile onset ascending, OMIM:607225
OMIM
606352
Clinvar variants
Variants in ALS2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

7 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

ALS2 was added to Paediatric motor neuronopathiespanel. Sources: Literature,UKGTN,Illumina TruGenome Clinical Sequencing Services

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ALS2 was created by agardham