1. Genes and Genomic Entities
  2. ADSSL1

ADSSL1

adenylosuccinate synthase like 1
OMIM: 612498, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green ADSSL1 in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (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
    • Expert Review
    Phenotypes
    • Myopathy, distal, 5, OMIM:617030
    Tags
    • new-gene-name
    Green ADSSL1 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
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Myopathy, distal, 5, OMIM:617030
    Tags
    • new-gene-name
    Amber ADSSL1 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myopathy, distal, 5, OMIM:617030
    • myopathy, distal, 5, MONDO:0014877
    • hypertrophic cardiomyopathy, MONDO:0005045
    Tags
    • new-gene-name
    • Q3_25_promote_green