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  3. PDX1
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Maturity-onset Diabetes of the Young

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

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with pancreatic genesis with heterozygous carrier parents noted to have a MODY phenotype. Polymorphisms have also been associated with type 2 diabetes susceptibility.
Created: 21 Apr 2022, 6:20 a.m. | Last Modified: 21 Apr 2022, 6:20 a.m.
Panel Version: 0.13147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)

Publications

Created: 21 Apr 2022, 6:20 a.m.
Last Modified: 21 Apr 2022, 6:20 a.m.
Panel version: Imported from Mendeliome panel version 0.13147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Pancreatic agenesis 1 - MIM#260370 (AR)
  • MODY, type IV - MIM#606392(AD)
OMIM
600733
Clinvar variants
Variants in PDX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: PDX1 were changed from Pancreatic agenesis 1 to Pancreatic agenesis 1 - MIM#260370 (AR); MODY, type IV - MIM#606392(AD)

22 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PDX1 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PDX1 was added gene: PDX1 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDX1 were set to Pancreatic agenesis 1