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Adult onset hereditary spastic paraplegia
Gene: ALS2

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

6 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.

Panel Version: 1.95

Created: 14 Mar 2022, 1:19 p.m.
Last Modified: 14 Mar 2022, 1:19 p.m.
Panel version: 1.95

Arina Puzriakova (Genomics England Curator)

ALS2 is associated with several phenotypes in OMIM including ALS2 (MIM# 205100), PLS (MIM# 606353), and spastic paralysis (MIM# 607225). These are all early-onset conditions, arising within the first decade of life. However, ALS and PLS are progressive disorders and significant spasticity may only become apparent during adolescence in some cases. Inclusion on this panel may be considered to ensure identification of edge cases - however, the benefit is likely limited. Requires GMS expert review to assess whether this gene is appropriate for this adult onset panel (tagged Q3_21_phenotype)
Created: 16 Aug 2021, 2:19 p.m. | Last Modified: 16 Aug 2021, 2:19 p.m.

Panel Version: 1.32

Created: 16 Aug 2021, 2:19 p.m.
Last Modified: 16 Aug 2021, 2:19 p.m.
Panel version: 1.32

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 20 Sep 2020, 7:55 a.m. | Last Modified: 20 Sep 2020, 7:55 a.m.

Panel Version: 1.7

Created: 20 Sep 2020, 7:55 a.m.
Last Modified: 20 Sep 2020, 7:55 a.m.
Panel version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset only.
Created: 3 May 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Created: 3 May 2019, 3:31 p.m.

Panel version: 0.52

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.148

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

Green List (high evidence)

Victoria: Childhood on set. Several publications. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Yorkshire and North East GLH
NHS GMS
London North GLH

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

14 Mar 2022, Gel status: 2

Removed Tag, Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_expert_review was removed from gene: ALS2. Tag Q3_21_phenotype was removed from gene: ALS2.

14 Mar 2022, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to ALS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

16 Aug 2021, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_expert_review tag was added to gene: ALS2. Tag Q3_21_phenotype tag was added to gene: ALS2.

16 Aug 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 May 2019, Gel status: 4