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 1.68

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


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (30 Apr 2025)

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
Tags
  • Q1_26_expert_review
  • Q1_26_demote_amber