AP1S3:Ensemblv90

adaptor related protein complex 1 sigma 3 subunit
OMIM: 615781, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber AP1S3 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Psoriasis 15, pustular, susceptibility to} 616106

Amber AP1S3 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 2.40

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • {Psoriasis 15, pustular, susceptibility to} 616106

    Red AP1S3 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Pustular psoriasis

    Red AP1S3 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Pustular psoriasis

    Amber AP1S3 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Amber
    Phenotypes
    • {Psoriasis 15, pustular, susceptibility to} 616106