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  2. Monogenic Diabetes
  3. PDX1
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Monogenic Diabetes

Gene: PDX1

Green List (high evidence)
PDX1 (pancreatic and duodenal homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000139515
EnsemblGeneIds (GRCh37): ENSG00000139515
OMIM: 600733, Gene2Phenotype
PDX1 is in 5 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with Pancreatic agenesis 1, presenting with MODY
Created: 9 May 2024, 6:46 a.m. | Last Modified: 9 May 2024, 6:46 a.m.
Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
maturity-onset diabetes of the young type 4 MONDO:0011667

Publications

Created: 9 May 2024, 6:46 a.m.
Last Modified: 9 May 2024, 6:46 a.m.
Panel version: 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • maturity-onset diabetes of the young type 4 MONDO:0011667
OMIM
600733
Clinvar variants
Variants in PDX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pdx1 has been classified as Green List (High Evidence).

13 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 to maturity-onset diabetes of the young type 4 MONDO:0011667

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PDX1 were set to

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PDX1 was added gene: PDX1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4