Genomics England
GMS Panels
Panels
Genes and Entities

APPL1

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
OMIM: 604299
PanelMode of inheritanceDetails
1 panel
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Maturity-onset diabetes of the young, type 14}, OMIM:616511