1. Genes and Genomic Entities
  2. AMPD1

AMPD1

adenosine monophosphate deaminase 1
OMIM: 102770, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green AMPD1 in Rhabdomyolysis and metabolic muscle disorders

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
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
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Rhabdomyolysis
    • Myopathy due to myoadenylate deaminase deficiency 615511
    Red AMPD1 in Other rare neuromuscular disorders


    Version 19.202
    Latest signed off version: v19.1 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Rhabdomyolysis
    Red AMPD1 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red AMPD1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Myoadenylate deaminase deficiency (Disorders of purine metabolism)
    • Myopathy due to myoadenylate deaminase deficiency 615511
    Red AMPD1 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Myoadenylate deaminase deficiency (Disorders of purine metabolism)
    • Myopathy due to myoadenylate deaminase deficiency 615511
    Green AMPD1 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Myopathy due to myoadenylate deaminase deficiency, OMIM:615511