PanelApp (stage)
  1. Genes and Genomic Entities
  2. ACP5

ACP5

acid phosphatase 5, tartrate resistant
OMIM: 171640, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green ACP5 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944

Green ACP5 in Vasculitis


Level 2: Immunological disorders
Version 0.82

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ACP5 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944

    Green ACP5 in Mendeliome


    Version 1.1891

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944

    Green ACP5 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 0.186

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review Unknown
    Sources
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ACP5 in Systemic Autoinflammatory Disease_Periodic Fever


    Level 2: Immunological disorders
    Version 1.47

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spondyloenchondrodysplasia with immune dysregulation, MIM# 607944
    • Short stature
    • SLE, thrombocytopenia and autoimmune haemolytic anaemia
    • Possibly recurrent bacterial and viral infections

    Green ACP5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spondyloenchondrodysplasia with immune dysregulation 607944

    Green ACP5 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944