1. Genes and Genomic Entities
  2. ASCC1

ASCC1

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

6 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

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
Amber ASCC1 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867
    Tags
    • Q1_23_promote_green
    • Q1_23_NHS_review
    Green ASCC1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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
    Green ASCC1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Barrett esophagus/esophageal adenocarcinoma, 614266