PanelApp
  1. Genes and Genomic Entities
  2. SMN1

SMN1

survival of motor neuron 1, telomeric
OMIM: 600354, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green SMN1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.39

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy-1, MIM# 253300

    Green SMN1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.427

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinal muscular atrophy, type 0

    Green SMN1 in Mendeliome


    Version 1.3499

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy-1, MIM# 253300
    Tags
    • SV/CNV
    • treatable
    • clinical trial

    Green SMN1 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.68

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spinal muscular atrophy-1, MIM# 253300
    • Spinal muscular atrophy-2, MIM# 253550
    • Spinal muscular atrophy-3, MIM# 253400
    • Spinal muscular atrophy-4, MIM# 271150
    Tags
    • SV/CNV

    Green SMN1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinal muscular atrophy-1, 253300 (3)

    Green SMN1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Spinal muscular atrophy

    Green SMN1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Spinal muscular atrophy 253400
    • Spinal muscular atrophy 271150
    • Spinal muscular atrophy 253550
    • Spinal muscular atrophy 253300
    Tags
    • SV/CNV

    Green SMN1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
    Tags
    • SV/CNV

    Green SMN1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Spinal muscular atrophy type 1, MIM#253300
    Tags
    • treatable
    • clinical trial
    • neurological

    Green SMN1 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    • Mackenzie's Mission
    Phenotypes
    • Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669