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 2.0

2 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

Red APPL1 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

2 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