Genomic imprinting
Gene: ZFP57
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 7 unrelated cases of diabetes mellitus, transient neonatal 1 OMIM:601410, who shared pattern of mosaic hypomethylation and a conserved range of clinical features (PMID 18622393). Therefore, variants in ZFP57 can be regarded as responsible for this Multi Locus Imprinting Disturbance.Created: 2 Feb 2021, 4:41 p.m. | Last Modified: 2 Feb 2021, 4:41 p.m.
Panel Version: 0.79
http://www.imprinting-disorders.eu/?page_id=282. This is (c) gene whose mutation deranges imprinting in trans.Created: 4 May 2017, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: zfp57 has been classified as Green List (High Evidence).
Phenotypes for gene: ZFP57 were changed from Phenotype resulting from under expression: Transient Neonatal Diabetes Mellitus Type 1; Multi-locus imprinting disorder; Affected tissue: pancreatic beta-cells (prenatal growth restriction) to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance
Publications for gene: ZFP57 were set to PMID: 18622393; 23150280
ZFP57 was created by ellenmcdonagh
ZFP57 was added to Imprinted Genespanel. Sources: Imprinting GeCIP Subdomain