1. Panels
  2. DEMO Diabetes neonatal onset
  3. PTF1A
STRs in panel
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DEMO Diabetes neonatal onset

Gene: PTF1A

Green List (high evidence)
PTF1A (pancreas specific transcription factor, 1a)
EnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 12 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: PTF1A; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Isolated neonatal diabetes; neonatal diabetes and cerebellar agenesis.
Created: 11 Jan 2019, 4:27 p.m.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

Rebecca Foulger (Genomics England curator)

Comment on list classification: Rated green by Expert reviewer. Confirmed DD-G2P gene for 'Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM:609069'. Part of Exeter neonatal diabetes screen. 3 unrelated cases of PTF1A variants causing MIM:609069 listed in OMIM.
Created: 20 Apr 2017, 9:42 a.m.
Comment on mode of inheritance: Biallelic mode-of-inheritance confirmed by OMIM and G2P.
Created: 20 Apr 2017, 9:38 a.m.
Created: 20 Apr 2017, 9:38 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Permanent neonatal diabetes with cerebellar agenesis
  • Permanent neonatal diabetes mellitus (PNDM)
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
OMIM
607194
Clinvar variants
Variants in PTF1A
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: PTF1A was added gene: PTF1A was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTF1A were set to Permanent neonatal diabetes with cerebellar agenesis; Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069