Amyotrophic lateral sclerosis/motor neuron disease
Gene: ALS2Comment on list classification: This gene is on the NHNN panel for ALS/MND and is a confirmed DD gene for ALS2-related disorders. Two cases/families are reported in OMIM, with additional cases identified in a literature search (see publications).Created: 13 Jun 2016, 10:16 a.m.
This gene is on the Motor Neurone disease / ALS NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 13 Jun 2016, 9:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were changed from Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225 to Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100; Primary lateral sclerosis, juvenile, OMIM:606353
Promoted to version 1 on 19th December 2016 following external review and internal curation
This gene has been classified as Green List (High Evidence).
Publications for ALS2 were set to 25474699; 24503148; 23881933
Publications for ALS2 were set to 25474699; 24503148
Publications for ALS2 were set to 25474699;
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Model of inheritance for gene ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Expert
Model of inheritance for gene ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Source: Radboud University Medical Center, Nijmegen
ALS2 was added to Amyotrophic lateral sclerosis/motor neuron diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert