PanelApp
  1. Genes and Genomic Entities
  2. AP1S1

AP1S1

adaptor related protein complex 1 sigma 1 subunit
OMIM: 603531, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AP1S1 in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.30

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • MEDNIK syndrome, MONDO:0012251

Green AP1S1 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 1.22

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

Green AP1S1 in Mendeliome


Version 1.3795

3 reviews 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 0.137

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

Green AP1S1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • MEDNIK syndrome, MONDO:0012251

Green AP1S1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.497

1 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 1.45

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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 0.52

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

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