PanelApp
  1. Genes and Genomic Entities
  2. APPL1

APPL1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
OMIM: 604299, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red APPL1 in Mendeliome


Version 1.4851

3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type 14 MIM#616511
Tags
  • refuted

Red APPL1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.224

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • Royal Melbourne Hospital
    Phenotypes
    • {Maturity-onset diabetes of the young, type 14}, 616511
    • Diabetes
    Tags
    • refuted