AP1S3

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Amber AP1S3 in Mendeliome


Version 2.22

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 3.1

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 1.0

    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 2.0

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