Monogenic diabetes
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: TNDMCreated: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ZFP57 were changed from Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes to transient neonatal diabetes mellitus (disease), MONDO:0020525; Diabetes mellitus, transient neonatal, 1, OMIM:601410
Ivone Leong: Initial gene list and info col
Source NHS GMS was added to ZFP57.
Added phenotypes Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410 for gene: ZFP57
gene: ZFP57 was added gene: ZFP57 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZFP57 were set to Transient Neonatal Diabetes, Recessive; Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes