PanelApp (staging)
  1. Genes and Genomic Entities
  2. ASCC1

ASCC1

activating signal cointegrator 1 complex subunit 1
OMIM: 614215, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ASCC1 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

Component of the following Super Panels:

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

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807
    • MIM#616867)

    Green ASCC1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.416

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2 MIM#616867

    Green ASCC1 in Mendeliome


    Version 1.2302

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867

    Green ASCC1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital Myopathy - MONDO:0019952

    Green ASCC1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2

    Green ASCC1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867

    Green ASCC1 in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2 MIM#616867

    Green ASCC1 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
    • spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807