DEMO Diabetes neonatal onset
Gene: ZFP57
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.
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.
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