Neonatal diabetes
Gene: PTF1AEnsemblGeneIds (GRCh38): ENSG00000168267
EnsemblGeneIds (GRCh37): ENSG00000168267
OMIM: 607194, Gene2Phenotype
PTF1A is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: Previous phenotypes:
Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069;Permanent neonatal diabetes mellitus (PNDM);Permanent neonatal diabetes with cerebellar agenesisCreated: 3 Mar 2021, 2:35 p.m. | Last Modified: 3 Mar 2021, 2:35 p.m.
Panel Version: 2.25
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.
Sian Ellard (University of Exeter Medical School)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Pancreatic and cerebellar agenesis, OMIM:609069
- Permanent neonatal diabetes mellitus, MONDO:0100164
- Pancreatic agenesis 2, OMIM:615935
- OMIM
- 607194
- Clinvar variants
- Variants in PTF1A
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Cerebellar hypoplasia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PTF1A were changed from Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069; Permanent neonatal diabetes mellitus (PNDM); Permanent neonatal diabetes with cerebellar agenesis to Pancreatic and cerebellar agenesis, OMIM:609069; Permanent neonatal diabetes mellitus, MONDO:0100164; Pancreatic agenesis 2, OMIM:615935
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PTF1A. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)PTF1A was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen