APPL1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
OMIM: 604299, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green APPL1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.66

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, 616511

Green APPL1 in Monogenic diabetes


Version 2.50
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Maturity-onset diabetes of the young, type 14}, OMIM:616511