PanelApp (stage)
  1. Genes and Genomic Entities
  2. AP1S1

AP1S1

adaptor related protein complex 1 sigma 1 subunit
OMIM: 603531, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber AP1S1 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.13

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Non-syndromic congenital intestinal failure

Green AP1S1 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome (MIM#609313)

Green AP1S1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MEDNIK syndrome 609313
  • non-syndromic congenital intestinal failure

Green AP1S1 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome (MIM#609313)

Green AP1S1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • MEDNIK syndrome, MIM# 609313

Green AP1S1 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.14

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • MEDNIK Syndrome (MONDO:0012251, MIM#609313)
    • Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma

    Green AP1S1 in Metal Metabolism Disorders


    Level 2: Metabolic disorders
    Version 0.45

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • MEDNIK syndrome MONDO:0012251
    • Disorders of copper metabolism