1. Panels
  2. Monogenic Diabetes
  3. PTF1A
STRs in panel
Prev Next
Regions in panel
Prev Next

Monogenic Diabetes

Gene: PTF1A

Green List (high evidence)
PTF1A (pancreas specific transcription factor, 1a)
EnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 8 panels

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Established gene disease association with pancreatic and cerebellar agenesis usually presenting with neonatal diabetes

PMID: 24212882: cosegregation in the family for PTF1A variant and diabetes <22 years age
Many individuals reported with permanent neonatal diabetes mellitus diagnosis (PMID: 21749365; 10507728; 15543146; 19650412; 37854477)
Created: 9 May 2024, 6:37 a.m. | Last Modified: 9 May 2024, 6:37 a.m.
Panel Version: 0.107

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0012192

Publications

Created: 9 May 2024, 6:37 a.m.
Last Modified: 9 May 2024, 6:37 a.m.
Panel version: 0.107

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069
OMIM
607194
Clinvar variants
Variants in PTF1A
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: ptf1a 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: PTF1A were changed from Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 to Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069

13 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTF1A 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: PTF1A was added gene: PTF1A was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069