Adult onset hereditary spastic paraplegia
Gene: ALS2The 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
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
Childhood onset.Created: 20 Sep 2020, 7:55 a.m. | Last Modified: 20 Sep 2020, 7:55 a.m.
Panel Version: 1.7
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.
Victoria: Childhood on set. Several publications. In Sheffields HSP panelCreated: 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
Tag Q3_21_expert_review was removed from gene: ALS2. Tag Q3_21_phenotype was removed from gene: ALS2.
Source Expert Review Amber was added to ALS2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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
Tag Q3_21_expert_review tag was added to gene: ALS2. Tag Q3_21_phenotype tag was added to gene: ALS2.
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
Publications for gene: ALS2 were set to
Source Yorkshire and North East GLH was added to ALS2.
Source Expert Review Green was added to ALS2. Mode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 for gene: ALS2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to ALS2.
gene: ALS2 was added gene: ALS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ALS2 was set to