PanelApp
  1. Genes and Genomic Entities
  2. AMPD1

AMPD1

adenosine monophosphate deaminase 1
OMIM: 102770, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red AMPD1 in Mendeliome


Version 1.2511

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy due to myoadenylate deaminase deficiency (MIM#615511)
Tags
  • disputed

Red AMPD1 in Rhabdomyolysis and Metabolic Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 1.20

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Myopathy due to myoadenylate deaminase deficiency 615511
    • Rhabdomyolysis
    Tags
    • disputed

    Red AMPD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Adenosine monophosphate deaminase deficiency

    Red AMPD1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.117

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Adenosine monophosphate deaminase deficiency

    Red AMPD1 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.5

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • adenosine monophosphate deaminase deficiency MONDO:0013028