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  2. DEMO Diabetes neonatal onset
  3. ZFP57
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DEMO Diabetes neonatal onset

Gene: ZFP57

Green List (high evidence)
ZFP57 (ZFP57 zinc finger protein)
EnsemblGeneIds (GRCh38): ENSG00000204644
EnsemblGeneIds (GRCh37): ENSG00000204644
OMIM: 612192, Gene2Phenotype
ZFP57 is in 11 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: ZFP57; 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: Transient neonatal diabetes.
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, transient neonatal, 1' (MIM:601410). >3 unrelated cases reported in OMIM. Plus part of Exeter neonatal diabetes screen.
Created: 20 Apr 2017, 10:18 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed on G2P and from literature (PMID:18622393).
Created: 20 Apr 2017, 10:15 a.m.
Created: 20 Apr 2017, 10:15 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.22

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
  • Diabetes mellitus, transient neonatal, 1, 601410
  • Transient Neonatal Diabetes
  • Transient Neonatal Diabetes, Recessive
OMIM
612192
Clinvar variants
Variants in ZFP57
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: ZFP57 was added gene: ZFP57 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: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to 18622393 Phenotypes for gene: ZFP57 were set to Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive