Paediatric motor neuronopathies
Gene: ALS2
only a few families reported; need more evidence for neuronopathy,
has a more upper motor neuron phenotype with progressive dystonia and spasticityCreated: 2 Mar 2017, 6:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile ALS
Publications
Comment when marking as ready: Marked as amber because of the predominant upper motor neuron involvementCreated: 7 Mar 2017, 12:28 p.m.
Comment when marking as ready: Marked as amber because of the predominant upper motor neuron involvementCreated: 7 Mar 2017, 12:28 p.m.
Biallelic mutations in this gene cause upper motor neuron syndromes with bulbar involvementCreated: 31 Jan 2017, 1:31 p.m.
Biallelic mutations in this gene cause upper motor neuron syndromes with bulbar involvementCreated: 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
infantile-onset ascending spastic paralysis, 607225 is an allelic disorders with overlapping phenotype. Offered on UKGTN. Recognised on G2PCreated: 2 Nov 2016, 12:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
juvenile amyotrophic lateral sclerosis-2, 205100
Publications
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
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ALS2 was added to Paediatric motor neuronopathiespanel. Sources: Literature,UKGTN,Illumina TruGenome Clinical Sequencing Services
ALS2 was created by agardham