PanelApp (staging)
  1. Genes and Genomic Entities
  2. APPL1

APPL1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red APPL1 in Mendeliome


Version 1.2302

1 review 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

Red APPL1 in Maturity-onset Diabetes of the Young


Level 2: Endocrine disorders
Version 1.21

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511

Red APPL1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.136

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  1 review 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