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  2. Diabetes with additional phenotypes suggestive of a monogenic aetiology
  3. PTF1A
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Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

1 review

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069
  • Permanent neonatal diabetes mellitus (PNDM)
  • Permanent neonatal diabetes with cerebellar agenesis
OMIM
607194
Clinvar variants
Variants in PTF1A
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PTF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PTF1A was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PTF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PTF1A was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen