ASCC1

activating signal cointegrator 1 complex subunit 1
OMIM: 614215, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ASCC1 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 2, 616867
  • Spinal muscular atrophy
  • arthrogryposis
  • fetal akinesia
  • hypotonia
  • contractures
Green ASCC1 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
    Green ASCC1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • spinal muscular atrophy
    • arthrogryposis
    • fetal akinesia
    • hypotonia
    • contractures
    Red ASCC1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
    Green ASCC1 in Paediatric disorders - additional genes


    Level 2: Developmental disorders
    Version 7.31
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
    • spinal muscular atrophy
    • arthrogryposis
    • fetal akinesia
    • hypotonia
    • contractures