ALS2

ALS2, alsin Rho guanine nucleotide exchange factor
OMIM: 606352, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Amber ALS2 in Neuromuscular disorders


Version 5.51
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • juvenile amyotrophic lateral sclerosis-2, 205100

Green ALS2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.215

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 607225

Green ALS2 in Hereditary spastic paraplegia - childhood onset


Version 2.12
Signed off v.2.8 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paralysis, infantile onset ascending,autosomal recessive, 607225
  • Primary lateral sclerosis, juvenile, autosomal recessive, 606353
  • Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100

Green ALS2 in Hereditary spastic paraplegia - adult onset


Version 1.7
Signed off v.1.3 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paralysis, infantile onset ascending,autosomal recessive, 607225
  • Primary lateral sclerosis, juvenile, autosomal recessive, 606353
  • Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100

Green ALS2 in Neurodegenerative disorders - adult onset


Version 2.4
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Primary lateral sclerosis, juvenile, 606353
  • Spastic paralysis, infantile onset ascending, 607225
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
  • Amyotrophic Lateral Sclerosis, Recessive

Red ALS2 in Fetal anomalies


Version 1.73
Signed off v.1.2 on 17 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ALS2-RELATED DISORDERS

Green ALS2 in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Amyotrophic Lateral Sclerosis, Recessive
  • Amyotrophic lateral sclerosis 2, juvenile, 205100
  • Primary lateral sclerosis, juvenile, 606353
  • Spastic paralysis, infantile onset ascending, 607225

Amber ALS2 in Paediatric motor neuronopathies

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.32
Signed off v.1.30 on 4 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • juvenile amyotrophic lateral sclerosis-2, 205100

    Green ALS2 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ALS2-RELATED DISORDERS 240656

    Red ALS2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ALS2-RELATED DISORDERS
    • Amyotrophic lateral sclerosis 2, juvenile, 205100

    Green ALS2 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Amyotrophic lateral sclerosis 2, juvenile, 205100
    • Primary lateral sclerosis, juvenile, 606353
    • Spastic paralysis, infantile onset ascending, 607225