1. Genes and Genomic Entities
  2. ADSSL1

ADSSL1

adenylosuccinate synthase like 1
OMIM: 612498, Gene2Phenotype

2 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.17
Latest signed off version: v3.0 (22 Mar 2023)

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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    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