Genomics England
GMS Panels
Panels
Genes and Entities

PDX1

pancreatic and duodenal homeobox 1
OMIM: 600733
PanelMode of inheritanceDetails
2 panels
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic agenesis 1, MODY4, Maturity-Onset Diabetes Of The Young, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4, Permanent neonatal diabetes, Maturity-onset diabetes of the young (MODY), MODY type IV, Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392
Green
in Neonatal diabetes
R-numbers: R143
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pancreatic agenesis 1, OMIM:260370, MODY, type IV, OMIM:606392, Permanent neonatal diabetes mellitus, MONDO:0100164, permanent neonatal diabetes mellitus associated with pancreas agenesis